| NM_198578.4(LRRK2):c.2701_2702delinsCT (p.Ser901Leu) |
indel |
Autosomal dominant Parkinson disease 8 [RCV000543093]|LRRK2-related condition [RCV003905395] |
Chr12:40293556..40293557 [GRCh38]
Chr12:40687358..40687359 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7296C>G (p.Gly2432=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001112954]|Inborn genetic diseases [RCV002384141] |
Chr12:40364956 [GRCh38]
Chr12:40758758 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.5870G>T (p.Arg1957Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000550446] |
Chr12:40335079 [GRCh38]
Chr12:40728881 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2501-8_2501-7dup |
duplication |
not specified [RCV000517617] |
Chr12:40287341..40287342 [GRCh38]
Chr12:40681143..40681144 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5105T>C (p.Met1702Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001857910]|not provided [RCV000994897]|not specified [RCV000518680] |
Chr12:40321123 [GRCh38]
Chr12:40714925 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6466G>T (p.Val2156Phe) |
single nucleotide variant |
not provided [RCV000519094] |
Chr12:40351623 [GRCh38]
Chr12:40745425 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032402]|not provided [RCV000415849]|not specified [RCV001659922] |
Chr12:40251273 [GRCh38]
Chr12:40645075 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.1088A>G (p.Asn363Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032403] |
Chr12:40251361 [GRCh38]
Chr12:40645163 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.1096G>A (p.Val366Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032404] |
Chr12:40251369 [GRCh38]
Chr12:40645171 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032405]|LRRK2-related condition [RCV003914888]|not provided [RCV001719714] |
Chr12:40252984 [GRCh38]
Chr12:40646786 [GRCh37]
Chr12:12q12 |
pathogenic|benign|likely benign |
| NM_198578.4(LRRK2):c.1383= (p.Ser461=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032406] |
Chr12:40257342 [GRCh38]
Chr12:40651144 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1464A>T (p.Leu488=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032407]|Inborn genetic diseases [RCV002390128] |
Chr12:40259525 [GRCh38]
Chr12:40653327 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance|not provided |
| NM_198578.3(LRRK2):c.149A>G (p.His50Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032408]|not specified [RCV000518786] |
Chr12:40225280 [GRCh38]
Chr12:40619082 [GRCh37]
Chr12:12q12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.1517G>A (p.Arg506Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032409]|not provided [RCV002277114] |
Chr12:40259578 [GRCh38]
Chr12:40653380 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.155C>T (p.Ser52Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032410] |
Chr12:40225558 [GRCh38]
Chr12:40619360 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032411]|not specified [RCV001289088] |
Chr12:40263806 [GRCh38]
Chr12:40657608 [GRCh37]
Chr12:12q12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.1630A>G (p.Lys544Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032412] |
Chr12:40263875 [GRCh38]
Chr12:40657677 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032413]|not provided [RCV000712237]|not specified [RCV001725938] |
Chr12:40263898 [GRCh38]
Chr12:40657700 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.1674= (p.Gly558=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032414] |
Chr12:40274600 [GRCh38]
Chr12:40668402 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1847A>G (p.Lys616Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032415] |
Chr12:40274899 [GRCh38]
Chr12:40668701 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.1987T>C (p.Ser663Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032416] |
Chr12:40277933 [GRCh38]
Chr12:40671735 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.2022A>C (p.Val674=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032417]|Inborn genetic diseases [RCV002415444]|not specified [RCV000516879] |
Chr12:40277968 [GRCh38]
Chr12:40671770 [GRCh37]
Chr12:12q12 |
benign|likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.2134A>G (p.Met712Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032418]|not provided [RCV002243678] |
Chr12:40278154 [GRCh38]
Chr12:40671956 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.2147C>T (p.Ala716Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032419] |
Chr12:40278167 [GRCh38]
Chr12:40671969 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.2167A>G (p.Ile723Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032420]|not provided [RCV001682719] |
Chr12:40278187 [GRCh38]
Chr12:40671989 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.225G>A (p.Ala75=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032421]|Inborn genetic diseases [RCV002444452]|not provided [RCV001705620] |
Chr12:40225628 [GRCh38]
Chr12:40619430 [GRCh37]
Chr12:12q12 |
benign|likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032422]|not provided [RCV001705621] |
Chr12:40283897 [GRCh38]
Chr12:40677699 [GRCh37]
Chr12:12q12 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032423]|not provided [RCV001354528] |
Chr12:40284011 [GRCh38]
Chr12:40677813 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.2428A>G (p.Ile810Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032424]|not provided [RCV000479404] |
Chr12:40284061 [GRCh38]
Chr12:40677863 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.2481T>C (p.Ser827=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032425]|Inborn genetic diseases [RCV002426533] |
Chr12:40284114 [GRCh38]
Chr12:40677916 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.2611A>G (p.Lys871Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032426] |
Chr12:40287461 [GRCh38]
Chr12:40681263 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.2769G>C (p.Gln923His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032427]|not provided [RCV000483489] |
Chr12:40293624 [GRCh38]
Chr12:40687426 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.2789A>G (p.Gln930Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032428] |
Chr12:40293644 [GRCh38]
Chr12:40687446 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.2830G>T (p.Asp944Tyr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032429] |
Chr12:40294866 [GRCh38]
Chr12:40688668 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.2857T>C (p.Leu953=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032430]|not provided [RCV000712238]|not specified [RCV001579630] |
Chr12:40294893 [GRCh38]
Chr12:40688695 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.28G>A (p.Glu10Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032431] |
Chr12:40225159 [GRCh38]
Chr12:40618961 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2918G>A (p.Ser973Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032432] |
Chr12:40295466 [GRCh38]
Chr12:40689268 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032433] |
Chr12:40295566 [GRCh38]
Chr12:40689368 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3021= (p.Ser1007=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032434] |
Chr12:40295569 [GRCh38]
Chr12:40689371 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3200G>A (p.Arg1067Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032435] |
Chr12:40298346 [GRCh38]
Chr12:40692148 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.3287C>G (p.Ser1096Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032436] |
Chr12:40298433 [GRCh38]
Chr12:40692235 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032437]|not provided [RCV001705622] |
Chr12:40298479 [GRCh38]
Chr12:40692281 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032438]|Inborn genetic diseases [RCV002321496]|LRRK2-related condition [RCV003964827]|not provided [RCV000875282]|not specified [RCV001659923] |
Chr12:40298488 [GRCh38]
Chr12:40692290 [GRCh37]
Chr12:12q12 |
pathogenic|benign|likely benign |
| NM_198578.4(LRRK2):c.3451G>A (p.Ala1151Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032439] |
Chr12:40299212 [GRCh38]
Chr12:40693014 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3494T>C (p.Leu1165Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032440] |
Chr12:40299255 [GRCh38]
Chr12:40693057 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032441]|not provided [RCV000657893] |
Chr12:40235634 [GRCh38]
Chr12:40629436 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.3574A>G (p.Ile1192Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032442] |
Chr12:40302866 [GRCh38]
Chr12:40696668 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3647A>G (p.His1216Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032443] |
Chr12:40304004 [GRCh38]
Chr12:40697806 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.364= (p.Leu122=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032444] |
Chr12:40235642 [GRCh38]
Chr12:40629444 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3683G>C (p.Ser1228Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032445]|not provided [RCV003390709] |
Chr12:40304040 [GRCh38]
Chr12:40697842 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.3683G>T (p.Ser1228Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032446] |
Chr12:40304040 [GRCh38]
Chr12:40697842 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032447]|LRRK2-related condition [RCV003914889]|not provided [RCV000873877] |
Chr12:40305791 [GRCh38]
Chr12:40699593 [GRCh37]
Chr12:12q12 |
benign|likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.3960G>T (p.Arg1320Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032448]|not provided [RCV003390710] |
Chr12:40308467 [GRCh38]
Chr12:40702269 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032449]|not provided [RCV001731324] |
Chr12:40308481 [GRCh38]
Chr12:40702283 [GRCh37]
Chr12:12q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032450]|not provided [RCV003389750] |
Chr12:40308618 [GRCh38]
Chr12:40702420 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4125C>A (p.Asp1375Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032451] |
Chr12:40308632 [GRCh38]
Chr12:40702434 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032452]|not provided [RCV001579406]|not specified [RCV001723597] |
Chr12:40309109 [GRCh38]
Chr12:40702911 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4290C>T (p.Ala1430=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032456]|Inborn genetic diseases [RCV002326717]|LRRK2-related condition [RCV003952383] |
Chr12:40309206 [GRCh38]
Chr12:40703008 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance|not provided |
| NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032453]|LRRK2-related condition [RCV003924881]|not provided [RCV001564529] |
Chr12:40309145 [GRCh38]
Chr12:40702947 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4258G>A (p.Asp1420Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032454] |
Chr12:40309174 [GRCh38]
Chr12:40702976 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032455]|not provided [RCV000712239]|not specified [RCV001725939] |
Chr12:40309185 [GRCh38]
Chr12:40702987 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4309A>C (p.Asn1437His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032457] |
Chr12:40309225 [GRCh38]
Chr12:40703027 [GRCh37]
Chr12:12q12 |
pathogenic|not provided |
| NM_198578.4(LRRK2):c.4323C>T (p.Arg1441=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032458]|Inborn genetic diseases [RCV002326718] |
Chr12:40310436 [GRCh38]
Chr12:40704238 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.4324G>C (p.Ala1442Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032459] |
Chr12:40310437 [GRCh38]
Chr12:40704239 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.4337C>T (p.Pro1446Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032460]|LRRK2-related condition [RCV003952384] |
Chr12:40310450 [GRCh38]
Chr12:40704252 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.4348G>A (p.Val1450Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032461] |
Chr12:40310461 [GRCh38]
Chr12:40704263 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4364_4365del (p.Asp1455fs) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV000032462] |
Chr12:40310477..40310478 [GRCh38]
Chr12:40704279..40704280 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.4402A>G (p.Lys1468Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032463]|not provided [RCV002269259] |
Chr12:40310515 [GRCh38]
Chr12:40704317 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.4448G>A (p.Arg1483Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032464] |
Chr12:40310561 [GRCh38]
Chr12:40704363 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032465]|LRRK2-related condition [RCV003914890]|not provided [RCV001357806] |
Chr12:40313976 [GRCh38]
Chr12:40707778 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.457T>C (p.Leu153=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032466]|not provided [RCV001610303]|not specified [RCV001529270] |
Chr12:40237989 [GRCh38]
Chr12:40631791 [GRCh37]
Chr12:12q12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032467]|not provided [RCV000712240]|not specified [RCV001580002] |
Chr12:40314059 [GRCh38]
Chr12:40707861 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4666C>A (p.Leu1556Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032468] |
Chr12:40314101 [GRCh38]
Chr12:40707903 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.4793T>A (p.Val1598Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032469] |
Chr12:40315266 [GRCh38]
Chr12:40709068 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.4838T>C (p.Val1613Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032470] |
Chr12:40319998 [GRCh38]
Chr12:40713800 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032471]|not provided [RCV001675586]|not specified [RCV001529070] |
Chr12:40320032 [GRCh38]
Chr12:40713834 [GRCh37]
Chr12:12q12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032472]|Early onset Alzheimer disease with behavioral disturbance [RCV000984891]|Klippel-Feil syndrome 1, autosomal dominant [RCV000984893]|Spinocerebellar atrophy [RCV000984892]|not provided [RCV001705623] |
Chr12:40320043 [GRCh38]
Chr12:40713845 [GRCh37]
Chr12:12q12 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|no classifications from unflagged records |
| NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032473]|not provided [RCV001659924]|not specified [RCV001528780] |
Chr12:40320071 [GRCh38]
Chr12:40713873 [GRCh37]
Chr12:12q12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032474]|LRRK2-related condition [RCV003974864]|not provided [RCV000712241] |
Chr12:40320097 [GRCh38]
Chr12:40713899 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032475]|not provided [RCV001762077]|not specified [RCV001579541] |
Chr12:40320099 [GRCh38]
Chr12:40713901 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4959A>G (p.Leu1653=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032476]|Inborn genetic diseases [RCV002336102] |
Chr12:40320119 [GRCh38]
Chr12:40713921 [GRCh37]
Chr12:12q12 |
benign|likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032477]|Inborn genetic diseases [RCV002336103]|LRRK2-related condition [RCV003914891]|not provided [RCV001355535] |
Chr12:40321181 [GRCh38]
Chr12:40714983 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.5173C>T (p.Arg1725Ter) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032478] |
Chr12:40322037 [GRCh38]
Chr12:40715839 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.5174G>A (p.Arg1725Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032479] |
Chr12:40322038 [GRCh38]
Chr12:40715840 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.5183G>A (p.Arg1728His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032480] |
Chr12:40322047 [GRCh38]
Chr12:40715849 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.5183G>T (p.Arg1728Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032481] |
Chr12:40322047 [GRCh38]
Chr12:40715849 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.5385G>T (p.Leu1795Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032482]|not provided [RCV001578132] |
Chr12:40322386 [GRCh38]
Chr12:40716188 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032483]|not provided [RCV001650853]|not specified [RCV001528640] |
Chr12:40322458 [GRCh38]
Chr12:40716260 [GRCh37]
Chr12:12q12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.5467C>A (p.Gln1823Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032484] |
Chr12:40322468 [GRCh38]
Chr12:40716270 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.546A>G (p.Lys182=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032485]|Inborn genetic diseases [RCV002345260] |
Chr12:40238078 [GRCh38]
Chr12:40631880 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance|not provided |
| NM_198578.4(LRRK2):c.5605A>G (p.Met1869Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032486] |
Chr12:40323255 [GRCh38]
Chr12:40717057 [GRCh37]
Chr12:12q12 |
pathogenic|not provided |
| NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032487]|not provided [RCV003390711] |
Chr12:40323256 [GRCh38]
Chr12:40717058 [GRCh37]
Chr12:12q12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.5610G>T (p.Leu1870Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032488] |
Chr12:40323260 [GRCh38]
Chr12:40717062 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.5620G>T (p.Glu1874Ter) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032489] |
Chr12:40323270 [GRCh38]
Chr12:40717072 [GRCh37]
Chr12:12q12 |
pathogenic|not provided |
| NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032490]|not specified [RCV003317051] |
Chr12:40335031 [GRCh38]
Chr12:40728833 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6016T>C (p.Tyr2006His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032491] |
Chr12:40340361 [GRCh38]
Chr12:40734163 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.6035T>C (p.Ile2012Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032492] |
Chr12:40340380 [GRCh38]
Chr12:40734182 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.6091A>T (p.Thr2031Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032493] |
Chr12:40340436 [GRCh38]
Chr12:40734238 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.6187_6191del (p.Leu2062_Leu2063insTer) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV000032494]|not provided [RCV000387933] |
Chr12:40346827..40346831 [GRCh38]
Chr12:40740629..40740633 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032495]|not provided [RCV000712242]|not specified [RCV001579891] |
Chr12:40346884 [GRCh38]
Chr12:40740686 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032496]|not provided [RCV001659925]|not specified [RCV001579862] |
Chr12:40348452 [GRCh38]
Chr12:40742254 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.632C>T (p.Ala211Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032497]|not provided [RCV003390712] |
Chr12:40240543 [GRCh38]
Chr12:40634345 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.6356C>T (p.Pro2119Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032498] |
Chr12:40348484 [GRCh38]
Chr12:40742286 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.6415T>A (p.Cys2139Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032499] |
Chr12:40351572 [GRCh38]
Chr12:40745374 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.6422C>T (p.Thr2141Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032500]|not provided [RCV003884337] |
Chr12:40351579 [GRCh38]
Chr12:40745381 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance|not provided |
| NM_198578.4(LRRK2):c.6428G>A (p.Arg2143His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032501] |
Chr12:40351585 [GRCh38]
Chr12:40745387 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6510C>A (p.Gly2170=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032502]|Inborn genetic diseases [RCV002362603]|not provided [RCV001705624] |
Chr12:40351667 [GRCh38]
Chr12:40745469 [GRCh37]
Chr12:12q12 |
benign|likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032503] |
Chr12:40351723 [GRCh38]
Chr12:40745525 [GRCh37]
Chr12:12q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.713A>T (p.Asn238Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032507] |
Chr12:40243556 [GRCh38]
Chr12:40637358 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.6782A>T (p.Asn2261Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032504] |
Chr12:40356126 [GRCh38]
Chr12:40749928 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.683G>C (p.Cys228Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032505] |
Chr12:40240594 [GRCh38]
Chr12:40634396 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032506]|not provided [RCV000994898] |
Chr12:40363440 [GRCh38]
Chr12:40757242 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032509]|not provided [RCV000712243]|not specified [RCV001579835] |
Chr12:40363528 [GRCh38]
Chr12:40757330 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.7168G>A (p.Val2390Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032510] |
Chr12:40363541 [GRCh38]
Chr12:40757343 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.7183G>A (p.Glu2395Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032511] |
Chr12:40364843 [GRCh38]
Chr12:40758645 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.7186_7187dup (p.Val2396_Met2397insTer) |
duplication |
Autosomal dominant Parkinson disease 8 [RCV000032512] |
Chr12:40364845..40364846 [GRCh38]
Chr12:40758647..40758648 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.7190= (p.Met2397=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032513] |
Chr12:40364850 [GRCh38]
Chr12:40758652 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7224G>A (p.Met2408Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032514]|not provided [RCV001354607] |
Chr12:40364884 [GRCh38]
Chr12:40758686 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.7397T>A (p.Leu2466His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032515] |
Chr12:40367012 [GRCh38]
Chr12:40760814 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7435A>G (p.Asn2479Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032516] |
Chr12:40367050 [GRCh38]
Chr12:40760852 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.7468del (p.Gln2490fs) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV000032517] |
Chr12:40367649 [GRCh38]
Chr12:40761451 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.825= (p.His275=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032518] |
Chr12:40243668 [GRCh38]
Chr12:40637470 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.867= (p.Asn289=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032519] |
Chr12:40249854 [GRCh38]
Chr12:40643656 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.894T>C (p.Ala298=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032520] |
Chr12:40249881 [GRCh38]
Chr12:40643683 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.936G>T (p.Ala312=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032521]|Inborn genetic diseases [RCV002371805]|not provided [RCV003390713] |
Chr12:40249923 [GRCh38]
Chr12:40643725 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.6523G>C (p.Asp2175His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032555] |
Chr12:40351680 [GRCh38]
Chr12:40745482 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000002016] |
Chr12:40299125 [GRCh38]
Chr12:40692927 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000002013]|not provided [RCV001659678] |
Chr12:40310434 [GRCh38]
Chr12:40704236 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000002014] |
Chr12:40321114 [GRCh38]
Chr12:40714916 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000002015]|not provided [RCV002472921] |
Chr12:40310434 [GRCh38]
Chr12:40704236 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000002017]|Inborn genetic diseases [RCV000622347]|LRRK2-related condition [RCV003407254]|Parkinson disease, late-onset [RCV001836691]|Young-onset Parkinson disease [RCV001195216]|not provided [RCV000325492] |
Chr12:40340400 [GRCh38]
Chr12:40734202 [GRCh37]
Chr12:12q12 |
pathogenic|likely pathogenic|risk factor |
| NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000002018]|not provided [RCV001311806] |
Chr12:40340404 [GRCh38]
Chr12:40734206 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000002019] |
Chr12:40310435 [GRCh38]
Chr12:40704237 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000032508]|Parkinson disease [RCV001449818]|not provided [RCV003488320] |
Chr12:40363526 [GRCh38]
Chr12:40757328 [GRCh37]
Chr12:12q12 |
pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4608G>A (p.Ser1536=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000641024]|Inborn genetic diseases [RCV002334113] |
Chr12:40314043 [GRCh38]
Chr12:40707845 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.2842C>T (p.Arg948Ter) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001196941] |
Chr12:40294878 [GRCh38]
Chr12:40688680 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.3(LRRK2):c.1597G>A (p.Val533Ile) |
single nucleotide variant |
Malignant melanoma [RCV000069976] |
Chr12:40263842 [GRCh38]
Chr12:40657644 [GRCh37]
Chr12:38943911 [NCBI36]
Chr12:12q12 |
not provided |
| NM_198578.3(LRRK2):c.3517C>T (p.Pro1173Ser) |
single nucleotide variant |
Malignant melanoma [RCV000069977] |
Chr12:40302809 [GRCh38]
Chr12:40696611 [GRCh37]
Chr12:38982878 [NCBI36]
Chr12:12q12 |
not provided |
| NM_198578.3(LRRK2):c.4320T>C (p.Ala1440=) |
single nucleotide variant |
Malignant melanoma [RCV000069978] |
Chr12:40310433 [GRCh38]
Chr12:40704235 [GRCh37]
Chr12:38990502 [NCBI36]
Chr12:12q12 |
not provided |
| NM_198578.3(LRRK2):c.5757+1209G>C |
single nucleotide variant |
Lung cancer [RCV000111021] |
Chr12:40329669 [GRCh38]
Chr12:40723471 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2352C>A (p.Ser784Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638618]|Parkinson disease, late-onset [RCV000082877] |
Chr12:40283985 [GRCh38]
Chr12:40677787 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7300A>G (p.Ile2434Val) |
single nucleotide variant |
Parkinson disease, late-onset [RCV000082878]|not provided [RCV000712245] |
Chr12:40364960 [GRCh38]
Chr12:40758762 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7430G>A (p.Arg2477Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001348275] |
Chr12:40367045 [GRCh38]
Chr12:40760847 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 |
copy number gain |
See cases [RCV000207454] |
Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12 |
pathogenic |
| NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000804195]|Parkinson disease, late-onset [RCV000210925] |
Chr12:40310434 [GRCh38]
Chr12:40704236 [GRCh37]
Chr12:12q12 |
pathogenic|likely pathogenic |
| NM_198578.4(LRRK2):c.4358A>G (p.His1453Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225414] |
Chr12:40310471 [GRCh38]
Chr12:40704273 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.1288G>A (p.Val430Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225502] |
Chr12:40253016 [GRCh38]
Chr12:40646818 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4441G>A (p.Ala1481Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225515] |
Chr12:40310554 [GRCh38]
Chr12:40704356 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3187C>T (p.Leu1063Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225519]|Inborn genetic diseases [RCV002321847] |
Chr12:40298333 [GRCh38]
Chr12:40692135 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7006A>G (p.Ile2336Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225532] |
Chr12:40359422 [GRCh38]
Chr12:40753224 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5273A>C (p.His1758Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225616] |
Chr12:40322137 [GRCh38]
Chr12:40715939 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4314A>G (p.Ile1438Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225639] |
Chr12:40309230 [GRCh38]
Chr12:40703032 [GRCh37]
Chr12:12q12 |
uncertain significance|not provided |
| NM_198578.4(LRRK2):c.2314C>T (p.Arg772Ter) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225376] |
Chr12:40283947 [GRCh38]
Chr12:40677749 [GRCh37]
Chr12:12q12 |
likely pathogenic|uncertain significance |
| NM_198578.4(LRRK2):c.1132C>T (p.Leu378Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225401]|not provided [RCV003482244] |
Chr12:40251495 [GRCh38]
Chr12:40645297 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225428]|not provided [RCV001531780] |
Chr12:40359345 [GRCh38]
Chr12:40753147 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.691T>C (p.Ser231Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225487] |
Chr12:40240602 [GRCh38]
Chr12:40634404 [GRCh37]
Chr12:12q12 |
likely pathogenic|uncertain significance |
| NM_198578.4(LRRK2):c.856C>G (p.Leu286Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225585]|not specified [RCV001658050] |
Chr12:40249843 [GRCh38]
Chr12:40643645 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.1829T>C (p.Ile610Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225603] |
Chr12:40274881 [GRCh38]
Chr12:40668683 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7267A>T (p.Thr2423Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000225672] |
Chr12:40364927 [GRCh38]
Chr12:40758729 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:40624939-40760534)x1 |
copy number loss |
See cases [RCV000240560] |
Chr12:40624939..40760534 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1018G>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000321220] |
Chr12:40368783 [GRCh38]
Chr12:40762585 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*979T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000265301] |
Chr12:40368744 [GRCh38]
Chr12:40762546 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2900A>G (p.His967Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000371890]|Inborn genetic diseases [RCV002436158] |
Chr12:40295448 [GRCh38]
Chr12:40689250 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*364A>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000399691] |
Chr12:40368129 [GRCh38]
Chr12:40761931 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6801C>T (p.Thr2267=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000268712]|Inborn genetic diseases [RCV002365360]|not provided [RCV003391100] |
Chr12:40356145 [GRCh38]
Chr12:40749947 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.867C>T (p.Asn289=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000287168]|not provided [RCV001778901] |
Chr12:40249854 [GRCh38]
Chr12:40643656 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.3595C>A (p.Arg1199=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000287789] |
Chr12:40303952 [GRCh38]
Chr12:40697754 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2501-9dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV000272530]|not provided [RCV001690023]|not specified [RCV001288158] |
Chr12:40287340..40287341 [GRCh38]
Chr12:40681142..40681143 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4934A>G (p.Tyr1645Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000331387] |
Chr12:40320094 [GRCh38]
Chr12:40713896 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1069A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000290694] |
Chr12:40368834 [GRCh38]
Chr12:40762636 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3429C>T (p.Ser1143=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000292873]|Inborn genetic diseases [RCV002450858]|not provided [RCV003391098] |
Chr12:40299190 [GRCh38]
Chr12:40692992 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.*934_*936dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV000259216] |
Chr12:40368690..40368691 [GRCh38]
Chr12:40762492..40762493 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*736G>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000262903] |
Chr12:40368501 [GRCh38]
Chr12:40762303 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.*1182C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000296674] |
Chr12:40368947 [GRCh38]
Chr12:40762749 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.344A>C (p.His115Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000264693]|not provided [RCV001612978] |
Chr12:40232380 [GRCh38]
Chr12:40626182 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.*1482A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000299037] |
Chr12:40369247 [GRCh38]
Chr12:40763049 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.*936dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV000299469] |
Chr12:40368690..40368691 [GRCh38]
Chr12:40762492..40762493 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5510-9A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000861381]|LRRK2-related condition [RCV003967891]|Parkinson Disease, Dominant [RCV000343337]|not provided [RCV001672469]|not specified [RCV000517120] |
Chr12:40323151 [GRCh38]
Chr12:40716953 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.2987A>T (p.Asp996Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000261017] |
Chr12:40295535 [GRCh38]
Chr12:40689337 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*346A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000346560] |
Chr12:40368111 [GRCh38]
Chr12:40761913 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.*148T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000397033] |
Chr12:40367913 [GRCh38]
Chr12:40761715 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.6582T>C (p.Val2194=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000308792]|Inborn genetic diseases [RCV002374529] |
Chr12:40354304 [GRCh38]
Chr12:40748106 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.4627A>G (p.Ile1543Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000329340] |
Chr12:40314062 [GRCh38]
Chr12:40707864 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*935_*936dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV000354288] |
Chr12:40368690..40368691 [GRCh38]
Chr12:40762492..40762493 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1388T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000311481] |
Chr12:40369153 [GRCh38]
Chr12:40762955 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.*1181C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000381790] |
Chr12:40368946 [GRCh38]
Chr12:40762748 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.2826T>C (p.His942=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000266869] |
Chr12:40294862 [GRCh38]
Chr12:40688664 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4317+12del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV000359670]|not provided [RCV001579585] |
Chr12:40309245 [GRCh38]
Chr12:40703047 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.*84G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000317303] |
Chr12:40367849 [GRCh38]
Chr12:40761651 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6688G>A (p.Glu2230Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000363304] |
Chr12:40354410 [GRCh38]
Chr12:40748212 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5543T>C (p.Leu1848Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003311180] |
Chr12:40323193 [GRCh38]
Chr12:40716995 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5935G>C (p.Ala1979Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003311204] |
Chr12:40335144 [GRCh38]
Chr12:40728946 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.878A>G (p.Glu293Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003242845] |
Chr12:40249865 [GRCh38]
Chr12:40643667 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6844-1G>A |
single nucleotide variant |
not provided [RCV002292855] |
Chr12:40359259 [GRCh38]
Chr12:40753061 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1140A>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000345679] |
Chr12:40368905 [GRCh38]
Chr12:40762707 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6424A>C (p.Arg2142=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311186] |
Chr12:40351581 [GRCh38]
Chr12:40745383 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5697A>G (p.Glu1899=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003777255]|Inborn genetic diseases [RCV003311189] |
Chr12:40328400 [GRCh38]
Chr12:40722202 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2570C>T (p.Ala857Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003311193] |
Chr12:40287420 [GRCh38]
Chr12:40681222 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.874C>T (p.His292Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003311210] |
Chr12:40249861 [GRCh38]
Chr12:40643663 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.292A>G (p.Ser98Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003311219] |
Chr12:40232328 [GRCh38]
Chr12:40626130 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1391A>T (p.Lys464Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003311240] |
Chr12:40257350 [GRCh38]
Chr12:40651152 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1279T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000401467] |
Chr12:40369044 [GRCh38]
Chr12:40762846 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3435A>C (p.Ser1145=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000350165]|Inborn genetic diseases [RCV002450859] |
Chr12:40299196 [GRCh38]
Chr12:40692998 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.*721G>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000366982] |
Chr12:40368486 [GRCh38]
Chr12:40762288 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4930A>G (p.Asn1644Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000295624]|Inborn genetic diseases [RCV002338887] |
Chr12:40320090 [GRCh38]
Chr12:40713892 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1186C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000351712] |
Chr12:40368951 [GRCh38]
Chr12:40762753 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*936del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV000323788] |
Chr12:40368691 [GRCh38]
Chr12:40762493 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.*131del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV000341784]|not provided [RCV002292518] |
Chr12:40367895 [GRCh38]
Chr12:40761697 [GRCh37]
Chr12:12q12 |
benign|uncertain significance |
| NM_198578.4(LRRK2):c.6281-3dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV000357757] |
Chr12:40348402..40348403 [GRCh38]
Chr12:40742204..40742205 [GRCh37]
Chr12:12q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.2689+20dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV000359224]|not provided [RCV001579484]|not specified [RCV001726105] |
Chr12:40287550..40287551 [GRCh38]
Chr12:40681352..40681353 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.-124G>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000294489]|not provided [RCV001672742] |
Chr12:40225008 [GRCh38]
Chr12:40618810 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.709AAT[1] (p.Asn238del) |
microsatellite |
Autosomal dominant Parkinson disease 8 [RCV000379162] |
Chr12:40243552..40243554 [GRCh38]
Chr12:40637354..40637356 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3939T>A (p.Cys1313Ter) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001854119]|not specified [RCV000599083] |
Chr12:40305946 [GRCh38]
Chr12:40699748 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3960-5A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000641028] |
Chr12:40308462 [GRCh38]
Chr12:40702264 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1246C>T (p.Gln416Ter) |
single nucleotide variant |
not provided [RCV000524030] |
Chr12:40252974 [GRCh38]
Chr12:40646776 [GRCh37]
Chr12:12q12 |
likely pathogenic |
| GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 |
copy number gain |
See cases [RCV000448835] |
Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3 |
copy number gain |
See cases [RCV000512027] |
Chr12:29123400..40956186 [GRCh37]
Chr12:12p11.22-q12 |
likely pathogenic |
| NM_198578.4(LRRK2):c.4783T>A (p.Leu1595Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003300947] |
Chr12:40315256 [GRCh38]
Chr12:40709058 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5176G>C (p.Ala1726Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003300948] |
Chr12:40322040 [GRCh38]
Chr12:40715842 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3973C>A (p.Arg1325=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638927]|Inborn genetic diseases [RCV003300951] |
Chr12:40308480 [GRCh38]
Chr12:40702282 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2600A>T (p.Asp867Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638928]|Inborn genetic diseases [RCV003300952] |
Chr12:40287450 [GRCh38]
Chr12:40681252 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3807T>C (p.Asn1269=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300961] |
Chr12:40305814 [GRCh38]
Chr12:40699616 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1631A>G (p.Lys544Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003278448] |
Chr12:40263876 [GRCh38]
Chr12:40657678 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1537G>C (p.Val513Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003278456] |
Chr12:40259598 [GRCh38]
Chr12:40653400 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2964C>T (p.Asp988=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278461] |
Chr12:40295512 [GRCh38]
Chr12:40689314 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4449A>C (p.Arg1483=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278462] |
Chr12:40310562 [GRCh38]
Chr12:40704364 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3361G>A (p.Gly1121Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003278463] |
Chr12:40299122 [GRCh38]
Chr12:40692924 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.355C>T (p.Leu119Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003278470] |
Chr12:40235633 [GRCh38]
Chr12:40629435 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1227T>A (p.Ser409=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278471] |
Chr12:40252955 [GRCh38]
Chr12:40646757 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2922T>G (p.Ile974Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003278476] |
Chr12:40295470 [GRCh38]
Chr12:40689272 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5488T>G (p.Leu1830Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003278477] |
Chr12:40322489 [GRCh38]
Chr12:40716291 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1523T>C (p.Ile508Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003278490] |
Chr12:40259584 [GRCh38]
Chr12:40653386 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1753G>T (p.Ala585Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003278491] |
Chr12:40274679 [GRCh38]
Chr12:40668481 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2061G>A (p.Lys687=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278492] |
Chr12:40278007 [GRCh38]
Chr12:40671809 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4514T>A (p.Ile1505Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003278493] |
Chr12:40310627 [GRCh38]
Chr12:40704429 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2763A>C (p.Val921=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278497] |
Chr12:40293618 [GRCh38]
Chr12:40687420 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3316G>A (p.Val1106Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003278503] |
Chr12:40298462 [GRCh38]
Chr12:40692264 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2837T>G (p.Leu946Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003278506] |
Chr12:40294873 [GRCh38]
Chr12:40688675 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4714G>T (p.Ala1572Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003278507] |
Chr12:40314149 [GRCh38]
Chr12:40707951 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6601T>C (p.Cys2201Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003278508] |
Chr12:40354323 [GRCh38]
Chr12:40748125 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.266T>C (p.Ile89Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003278509] |
Chr12:40232302 [GRCh38]
Chr12:40626104 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1201G>A (p.Val401Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000559124]|Inborn genetic diseases [RCV003159819] |
Chr12:40252929 [GRCh38]
Chr12:40646731 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4424A>G (p.Asn1475Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003300953] |
Chr12:40310537 [GRCh38]
Chr12:40704339 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.837A>G (p.Leu279=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300954] |
Chr12:40243680 [GRCh38]
Chr12:40637482 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1487C>T (p.Thr496Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003300962] |
Chr12:40259548 [GRCh38]
Chr12:40653350 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh38/hg38 12q12(chr12:39651727-41240339)x3 |
copy number gain |
See cases [RCV000051957] |
Chr12:39651727..41240339 [GRCh38]
Chr12:40045529..41634141 [GRCh37]
Chr12:38331796..39920408 [NCBI36]
Chr12:12q12 |
uncertain significance |
| GRCh38/hg38 12q12-13.11(chr12:38590101-46551898)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|See cases [RCV000052809] |
Chr12:38590101..46551898 [GRCh38]
Chr12:38983903..46945681 [GRCh37]
Chr12:37270170..45231948 [NCBI36]
Chr12:12q12-13.11 |
pathogenic |
| NM_198578.4(LRRK2):c.1102-10C>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000281737]|not provided [RCV001594942]|not specified [RCV001580119] |
Chr12:40251455 [GRCh38]
Chr12:40645257 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2588A>G (p.Asn863Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000301843] |
Chr12:40287438 [GRCh38]
Chr12:40681240 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*123A>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000286847]|not provided [RCV003391101] |
Chr12:40367888 [GRCh38]
Chr12:40761690 [GRCh37]
Chr12:12q12 |
benign|uncertain significance |
| NM_198578.4(LRRK2):c.*971C>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000378435] |
Chr12:40368736 [GRCh38]
Chr12:40762538 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7483G>A (p.Val2495Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000280729]|not provided [RCV003311747] |
Chr12:40367664 [GRCh38]
Chr12:40761466 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.4828-9A>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000365298] |
Chr12:40319979 [GRCh38]
Chr12:40713781 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7062C>T (p.Ile2354=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000369212]|Inborn genetic diseases [RCV002365361] |
Chr12:40363435 [GRCh38]
Chr12:40757237 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.3864G>A (p.Met1288Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000348394] |
Chr12:40305871 [GRCh38]
Chr12:40699673 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1182-4A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000348434]|not provided [RCV001548083] |
Chr12:40252906 [GRCh38]
Chr12:40646708 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_198578.4(LRRK2):c.*96T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000371980]|not provided [RCV001690025] |
Chr12:40367861 [GRCh38]
Chr12:40761663 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.*384C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000306629] |
Chr12:40368149 [GRCh38]
Chr12:40761951 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1446A>G (p.Ala482=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000398629]|Inborn genetic diseases [RCV002392852]|not provided [RCV003389786] |
Chr12:40259507 [GRCh38]
Chr12:40653309 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000375193]|Leprosy, susceptibility to, 1 [RCV002291617]|not provided [RCV000712244]|not specified [RCV001528447] |
Chr12:40364850 [GRCh38]
Chr12:40758652 [GRCh37]
Chr12:12q12 |
benign|confers sensitivity |
| NM_198578.4(LRRK2):c.5270A>G (p.Asn1757Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000400364] |
Chr12:40322134 [GRCh38]
Chr12:40715936 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*470G>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000400558] |
Chr12:40368235 [GRCh38]
Chr12:40762037 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.5713G>C (p.Val1905Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000400697] |
Chr12:40328416 [GRCh38]
Chr12:40722218 [GRCh37]
Chr12:12q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.*405C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000352082] |
Chr12:40368170 [GRCh38]
Chr12:40761972 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2070+9T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000351845] |
Chr12:40278025 [GRCh38]
Chr12:40671827 [GRCh37]
Chr12:12q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.3678A>C (p.Leu1226Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000352012] |
Chr12:40304035 [GRCh38]
Chr12:40697837 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1464T>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000401766] |
Chr12:40369229 [GRCh38]
Chr12:40763031 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.3777+7C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000401606]|not provided [RCV003391099]|not specified [RCV001660613] |
Chr12:40304141 [GRCh38]
Chr12:40697943 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.3969A>G (p.Gln1323=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000402028]|Inborn genetic diseases [RCV002374528]|LRRK2-related condition [RCV003930309] |
Chr12:40308476 [GRCh38]
Chr12:40702278 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.6844-14_6844-13insA |
insertion |
Autosomal dominant Parkinson disease 8 [RCV000333206]|not provided [RCV001690024] |
Chr12:40359246..40359247 [GRCh38]
Chr12:40753048..40753049 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.3778-9C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000312332]|not provided [RCV001546584] |
Chr12:40305776 [GRCh38]
Chr12:40699578 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.*615T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000312424] |
Chr12:40368380 [GRCh38]
Chr12:40762182 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.-44G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000384782] |
Chr12:40225088 [GRCh38]
Chr12:40618890 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.*1035T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000385061] |
Chr12:40368800 [GRCh38]
Chr12:40762602 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1446T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000338404] |
Chr12:40369211 [GRCh38]
Chr12:40763013 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.3026A>C (p.His1009Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000318501]|Inborn genetic diseases [RCV002436159]|not specified [RCV003401307] |
Chr12:40295574 [GRCh38]
Chr12:40689376 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3778A>T (p.Ile1260Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003311206] |
Chr12:40305785 [GRCh38]
Chr12:40699587 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.619A>G (p.Ile207Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003311209] |
Chr12:40240530 [GRCh38]
Chr12:40634332 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3081A>G (p.Pro1027=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311227] |
Chr12:40295629 [GRCh38]
Chr12:40689431 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3473T>G (p.Phe1158Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003311237] |
Chr12:40299234 [GRCh38]
Chr12:40693036 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*223C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000291614] |
Chr12:40367988 [GRCh38]
Chr12:40761790 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3497-8del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV000388404]|LRRK2-related condition [RCV003977902]|not provided [RCV000712247] |
Chr12:40302774 [GRCh38]
Chr12:40696576 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.4417C>T (p.Leu1473Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000641023]|not provided [RCV001766376] |
Chr12:40310530 [GRCh38]
Chr12:40704332 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1250C>T (p.Ala417Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003362777]|not provided [RCV000416270] |
Chr12:40252978 [GRCh38]
Chr12:40646780 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu) |
single nucleotide variant |
Frontotemporal dementia [RCV000414857]|Inborn genetic diseases [RCV003380556] |
Chr12:40323297 [GRCh38]
Chr12:40717099 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1656+165A>C |
single nucleotide variant |
not provided [RCV001564975] |
Chr12:40264066 [GRCh38]
Chr12:40657868 [GRCh37]
Chr12:12q12 |
likely benign |
| GRCh37/hg19 12q12(chr12:39598809-41141181)x3 |
copy number gain |
See cases [RCV000446896] |
Chr12:39598809..41141181 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:40213704-40774519)x3 |
copy number gain |
See cases [RCV000448587] |
Chr12:40213704..40774519 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3638G>T (p.Gly1213Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003272204] |
Chr12:40303995 [GRCh38]
Chr12:40697797 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7512G>A (p.Val2504=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300964] |
Chr12:40367693 [GRCh38]
Chr12:40761495 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7384C>T (p.Gln2462Ter) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000641025] |
Chr12:40365044 [GRCh38]
Chr12:40758846 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2335A>T (p.Ile779Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003278489] |
Chr12:40283968 [GRCh38]
Chr12:40677770 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4596A>C (p.Lys1532Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003278485] |
Chr12:40314031 [GRCh38]
Chr12:40707833 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6610T>C (p.Leu2204=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278486] |
Chr12:40354332 [GRCh38]
Chr12:40748134 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6524A>G (p.Asp2175Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003278487] |
Chr12:40351681 [GRCh38]
Chr12:40745483 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3120G>T (p.Leu1040Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003278488] |
Chr12:40298266 [GRCh38]
Chr12:40692068 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1672G>T (p.Gly558Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003278494] |
Chr12:40274598 [GRCh38]
Chr12:40668400 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1577T>A (p.Phe526Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003278495] |
Chr12:40263822 [GRCh38]
Chr12:40657624 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1360C>A (p.His454Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003278496] |
Chr12:40257319 [GRCh38]
Chr12:40651121 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2202T>C (p.Asp734=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278505] |
Chr12:40278222 [GRCh38]
Chr12:40672024 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.347+2T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002061995]|not provided [RCV000596890] |
Chr12:40232385 [GRCh38]
Chr12:40626187 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.358A>G (p.Lys120Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003278466] |
Chr12:40235636 [GRCh38]
Chr12:40629438 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2519C>G (p.Ala840Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003278453] |
Chr12:40287369 [GRCh38]
Chr12:40681171 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7510G>A (p.Val2504Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003278464] |
Chr12:40367691 [GRCh38]
Chr12:40761493 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2510C>G (p.Ser837Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003278465] |
Chr12:40287360 [GRCh38]
Chr12:40681162 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1114T>G (p.Trp372Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003278468] |
Chr12:40251477 [GRCh38]
Chr12:40645279 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1811G>A (p.Cys604Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003278469] |
Chr12:40274863 [GRCh38]
Chr12:40668665 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5608T>C (p.Leu1870=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278479] |
Chr12:40323258 [GRCh38]
Chr12:40717060 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7264A>C (p.Asn2422His) |
single nucleotide variant |
Inborn genetic diseases [RCV003311187] |
Chr12:40364924 [GRCh38]
Chr12:40758726 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5557T>C (p.Ser1853Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003311197] |
Chr12:40323207 [GRCh38]
Chr12:40717009 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5169A>T (p.Arg1723Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003311198] |
Chr12:40321187 [GRCh38]
Chr12:40714989 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6871C>A (p.Leu2291Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003311203] |
Chr12:40359287 [GRCh38]
Chr12:40753089 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1743C>T (p.Ser581=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311207] |
Chr12:40274669 [GRCh38]
Chr12:40668471 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4212T>C (p.Thr1404=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311213] |
Chr12:40309128 [GRCh38]
Chr12:40702930 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7318T>C (p.Ser2440Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003311218] |
Chr12:40364978 [GRCh38]
Chr12:40758780 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2733T>C (p.Ile911=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311225] |
Chr12:40293588 [GRCh38]
Chr12:40687390 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4986A>G (p.Ile1662Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003311239] |
Chr12:40320146 [GRCh38]
Chr12:40713948 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6187C>T (p.Leu2063Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003311181] |
Chr12:40346830 [GRCh38]
Chr12:40740632 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1126A>G (p.Asn376Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003311185] |
Chr12:40251489 [GRCh38]
Chr12:40645291 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3398T>C (p.Ile1133Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003311188] |
Chr12:40299159 [GRCh38]
Chr12:40692961 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2844A>T (p.Arg948=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311200] |
Chr12:40294880 [GRCh38]
Chr12:40688682 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5807T>G (p.Leu1936Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003311212] |
Chr12:40335016 [GRCh38]
Chr12:40728818 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2371T>G (p.Leu791Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003311214] |
Chr12:40284004 [GRCh38]
Chr12:40677806 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5152T>C (p.Tyr1718His) |
single nucleotide variant |
Inborn genetic diseases [RCV003311223] |
Chr12:40321170 [GRCh38]
Chr12:40714972 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2048T>C (p.Ile683Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003311199] |
Chr12:40277994 [GRCh38]
Chr12:40671796 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3059A>G (p.Gln1020Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003311236] |
Chr12:40295607 [GRCh38]
Chr12:40689409 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1944A>C (p.Gly648=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311243] |
Chr12:40277890 [GRCh38]
Chr12:40671692 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1068A>T (p.Ala356=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311182] |
Chr12:40251341 [GRCh38]
Chr12:40645143 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5992C>T (p.His1998Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003311194] |
Chr12:40340337 [GRCh38]
Chr12:40734139 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.515C>T (p.Ala172Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003311196] |
Chr12:40238047 [GRCh38]
Chr12:40631849 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.767C>G (p.Ala256Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003311201] |
Chr12:40243610 [GRCh38]
Chr12:40637412 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3159T>C (p.Tyr1053=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311205] |
Chr12:40298305 [GRCh38]
Chr12:40692107 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6709A>G (p.Thr2237Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003311216] |
Chr12:40354431 [GRCh38]
Chr12:40748233 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2104G>T (p.Val702Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003311224] |
Chr12:40278124 [GRCh38]
Chr12:40671926 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2376G>A (p.Arg792=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311230] |
Chr12:40284009 [GRCh38]
Chr12:40677811 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2661T>A (p.Phe887Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003311232] |
Chr12:40287511 [GRCh38]
Chr12:40681313 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1218G>C (p.Leu406=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311235] |
Chr12:40252946 [GRCh38]
Chr12:40646748 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.586C>A (p.Leu196Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003311238] |
Chr12:40240497 [GRCh38]
Chr12:40634299 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3147A>G (p.Ser1049=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311242] |
Chr12:40298293 [GRCh38]
Chr12:40692095 [GRCh37]
Chr12:12q12 |
likely benign |
| GRCh37/hg19 12q11-12(chr12:37889608-41414167)x3 |
copy number gain |
See cases [RCV000512422] |
Chr12:37889608..41414167 [GRCh37]
Chr12:12q11-12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1230A>C (p.Ser410=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367984]|not provided [RCV000585433] |
Chr12:40252958 [GRCh38]
Chr12:40646760 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.3643G>A (p.Ala1215Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000556418]|not provided [RCV000513656] |
Chr12:40304000 [GRCh38]
Chr12:40697802 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000699356]|not provided [RCV000658642] |
Chr12:40320043 [GRCh38]
Chr12:40713845 [GRCh37]
Chr12:12q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.1240G>A (p.Val414Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000702536]|not provided [RCV000761822] |
Chr12:40252968 [GRCh38]
Chr12:40646770 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.736A>C (p.Asn246His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001078751]|not provided [RCV000712246] |
Chr12:40243579 [GRCh38]
Chr12:40637381 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6382-2A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000707563] |
Chr12:40351537 [GRCh38]
Chr12:40745339 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3721G>A (p.Ala1241Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000686567]|not provided [RCV001766466] |
Chr12:40304078 [GRCh38]
Chr12:40697880 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NC_000012.11:g.26370251_54361538inv |
inversion |
not specified [RCV000714265] |
Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13 |
uncertain significance |
| NM_198578.4(LRRK2):c.3033G>T (p.Glu1011Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000701907]|not provided [RCV003222116] |
Chr12:40295581 [GRCh38]
Chr12:40689383 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5594C>G (p.Pro1865Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000692894] |
Chr12:40323244 [GRCh38]
Chr12:40717046 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.368C>G (p.Thr123Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000695177] |
Chr12:40235646 [GRCh38]
Chr12:40629448 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2818T>G (p.Phe940Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000700610]|Inborn genetic diseases [RCV002440506] |
Chr12:40294854 [GRCh38]
Chr12:40688656 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1093C>A (p.His365Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000703546]|Inborn genetic diseases [RCV002442521] |
Chr12:40251366 [GRCh38]
Chr12:40645168 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1289-248_1289-246del |
deletion |
not provided [RCV001547351] |
Chr12:40256998..40257000 [GRCh38]
Chr12:40650800..40650802 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5657-268A>G |
single nucleotide variant |
not provided [RCV001574370] |
Chr12:40328092 [GRCh38]
Chr12:40721894 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6844-8dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV002070366]|not provided [RCV001658247]|not specified [RCV001529560] |
Chr12:40359242..40359243 [GRCh38]
Chr12:40753044..40753045 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.707-189T>C |
single nucleotide variant |
not provided [RCV001541350] |
Chr12:40243361 [GRCh38]
Chr12:40637163 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6577-57T>C |
single nucleotide variant |
not provided [RCV001541379] |
Chr12:40354242 [GRCh38]
Chr12:40748044 [GRCh37]
Chr12:12q12 |
likely benign |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_198578.4(LRRK2):c.5016-218C>T |
single nucleotide variant |
not provided [RCV001610948] |
Chr12:40320816 [GRCh38]
Chr12:40714618 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5317+32C>T |
single nucleotide variant |
not provided [RCV001708780] |
Chr12:40322213 [GRCh38]
Chr12:40716015 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1941+39C>T |
single nucleotide variant |
not provided [RCV001584637] |
Chr12:40275032 [GRCh38]
Chr12:40668834 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.152-56G>A |
single nucleotide variant |
not provided [RCV001680085] |
Chr12:40225499 [GRCh38]
Chr12:40619301 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4827+216G>A |
single nucleotide variant |
not provided [RCV001611574] |
Chr12:40315516 [GRCh38]
Chr12:40709318 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.237+239A>G |
single nucleotide variant |
not provided [RCV001564535] |
Chr12:40225879 [GRCh38]
Chr12:40619681 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.152-50G>A |
single nucleotide variant |
not provided [RCV001679181] |
Chr12:40225505 [GRCh38]
Chr12:40619307 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6066G>A (p.Gln2022=) |
single nucleotide variant |
Inborn genetic diseases [RCV002354693]|not provided [RCV000875269] |
Chr12:40340411 [GRCh38]
Chr12:40734213 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.4536+106T>C |
single nucleotide variant |
not provided [RCV001693233] |
Chr12:40310755 [GRCh38]
Chr12:40704557 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5931C>T (p.His1977=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002501327]|Inborn genetic diseases [RCV002354680] |
Chr12:40335140 [GRCh38]
Chr12:40728942 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.267A>C (p.Ile89=) |
single nucleotide variant |
not provided [RCV000761821] |
Chr12:40232303 [GRCh38]
Chr12:40626105 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3778-4T>A |
single nucleotide variant |
not provided [RCV000761823] |
Chr12:40305781 [GRCh38]
Chr12:40699583 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4188A>G (p.Ala1396=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003315180] |
Chr12:40308695 [GRCh38]
Chr12:40702497 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4433G>A (p.Gly1478Glu) |
single nucleotide variant |
not provided [RCV000994896] |
Chr12:40310546 [GRCh38]
Chr12:40704348 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2690-251C>T |
single nucleotide variant |
not provided [RCV001667420] |
Chr12:40293294 [GRCh38]
Chr12:40687096 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2030A>C (p.His677Pro) |
single nucleotide variant |
not provided [RCV003312226] |
Chr12:40277976 [GRCh38]
Chr12:40671778 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1418+129T>C |
single nucleotide variant |
not provided [RCV001570197] |
Chr12:40257506 [GRCh38]
Chr12:40651308 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.347+100C>T |
single nucleotide variant |
not provided [RCV001708215] |
Chr12:40232483 [GRCh38]
Chr12:40626285 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5170+23T>A |
single nucleotide variant |
not provided [RCV001612223] |
Chr12:40321211 [GRCh38]
Chr12:40715013 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1473G>T (p.Met491Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114061] |
Chr12:40259534 [GRCh38]
Chr12:40653336 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2322G>A (p.Ala774=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000878574]|Inborn genetic diseases [RCV002454056] |
Chr12:40283955 [GRCh38]
Chr12:40677757 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.2517A>G (p.Leu839=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000929592]|Inborn genetic diseases [RCV002427308] |
Chr12:40287367 [GRCh38]
Chr12:40681169 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4537-6T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001520584] |
Chr12:40313966 [GRCh38]
Chr12:40707768 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2594C>T (p.Ser865Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000876250]|not provided [RCV001655631] |
Chr12:40287444 [GRCh38]
Chr12:40681246 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.750T>C (p.Tyr250=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001447860]|Inborn genetic diseases [RCV002390850] |
Chr12:40243593 [GRCh38]
Chr12:40637395 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5171-9A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001440336] |
Chr12:40322026 [GRCh38]
Chr12:40715828 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7417T>C (p.Leu2473=) |
single nucleotide variant |
not provided [RCV000966632] |
Chr12:40367032 [GRCh38]
Chr12:40760834 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4168C>T (p.Leu1390=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638722]|Inborn genetic diseases [RCV002327183] |
Chr12:40308675 [GRCh38]
Chr12:40702477 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.620T>C (p.Ile207Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001070011]|Inborn genetic diseases [RCV003160578] |
Chr12:40240531 [GRCh38]
Chr12:40634333 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4037del (p.Gly1346fs) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV000779104] |
Chr12:40308543 [GRCh38]
Chr12:40702345 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2752C>T (p.Arg918Ter) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000778157] |
Chr12:40293607 [GRCh38]
Chr12:40687409 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1365T>C (p.Ser455=) |
single nucleotide variant |
not provided [RCV000917139] |
Chr12:40257324 [GRCh38]
Chr12:40651126 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6844-7G>T |
single nucleotide variant |
not provided [RCV000945673] |
Chr12:40359253 [GRCh38]
Chr12:40753055 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2761G>A (p.Val921Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002540005]|not provided [RCV000876553] |
Chr12:40293616 [GRCh38]
Chr12:40687418 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3496+9T>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001112796]|LRRK2-related condition [RCV003970653] |
Chr12:40299266 [GRCh38]
Chr12:40693068 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.2379G>A (p.Arg793=) |
single nucleotide variant |
Inborn genetic diseases [RCV002445018]|not provided [RCV000918194] |
Chr12:40284012 [GRCh38]
Chr12:40677814 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1476A>G (p.Lys492=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114062]|Inborn genetic diseases [RCV003169252]|not provided [RCV000895807] |
Chr12:40259537 [GRCh38]
Chr12:40653339 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7092T>C (p.Tyr2364=) |
single nucleotide variant |
Inborn genetic diseases [RCV002363506]|not provided [RCV000981832] |
Chr12:40363465 [GRCh38]
Chr12:40757267 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3432A>G (p.Leu1144=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002545939]|Inborn genetic diseases [RCV003169430] |
Chr12:40299193 [GRCh38]
Chr12:40692995 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4156A>C (p.Arg1386=) |
single nucleotide variant |
Inborn genetic diseases [RCV003307765]|not provided [RCV000973329] |
Chr12:40308663 [GRCh38]
Chr12:40702465 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2984G>A (p.Arg995Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003311184] |
Chr12:40295532 [GRCh38]
Chr12:40689334 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5874G>C (p.Leu1958=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311191] |
Chr12:40335083 [GRCh38]
Chr12:40728885 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4542A>C (p.Arg1514=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311192] |
Chr12:40313977 [GRCh38]
Chr12:40707779 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2355G>C (p.Gln785His) |
single nucleotide variant |
Inborn genetic diseases [RCV003311211] |
Chr12:40283988 [GRCh38]
Chr12:40677790 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3051G>A (p.Glu1017=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311217] |
Chr12:40295599 [GRCh38]
Chr12:40689401 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6889A>G (p.Ser2297Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003311220] |
Chr12:40359305 [GRCh38]
Chr12:40753107 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.525A>G (p.Glu175=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311221] |
Chr12:40238057 [GRCh38]
Chr12:40631859 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2467C>G (p.Pro823Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003311179] |
Chr12:40284100 [GRCh38]
Chr12:40677902 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3504G>A (p.Met1168Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003311190] |
Chr12:40302796 [GRCh38]
Chr12:40696598 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2437G>T (p.Val813Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003311202] |
Chr12:40284070 [GRCh38]
Chr12:40677872 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6638G>C (p.Ser2213Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003311228] |
Chr12:40354360 [GRCh38]
Chr12:40748162 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2907G>T (p.Arg969Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003311229] |
Chr12:40295455 [GRCh38]
Chr12:40689257 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1073C>T (p.Thr358Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000821270]|Inborn genetic diseases [RCV003169023] |
Chr12:40251346 [GRCh38]
Chr12:40645148 [GRCh37]
Chr12:12q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.5363T>C (p.Met1788Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000794297] |
Chr12:40322364 [GRCh38]
Chr12:40716166 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4894G>C (p.Glu1632Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000807936]|not specified [RCV003396412] |
Chr12:40320054 [GRCh38]
Chr12:40713856 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3184A>G (p.Asn1062Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000802117] |
Chr12:40298330 [GRCh38]
Chr12:40692132 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1865G>C (p.Gly622Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000819840] |
Chr12:40274917 [GRCh38]
Chr12:40668719 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1289-6del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV000822486] |
Chr12:40257242 [GRCh38]
Chr12:40651044 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2357T>C (p.Ile786Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000819066]|Inborn genetic diseases [RCV002442743] |
Chr12:40283990 [GRCh38]
Chr12:40677792 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*277A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114312] |
Chr12:40368042 [GRCh38]
Chr12:40761844 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1352A>G (p.Lys451Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000802047] |
Chr12:40257311 [GRCh38]
Chr12:40651113 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2778A>G (p.Ser926=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001501824] |
Chr12:40293633 [GRCh38]
Chr12:40687435 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4318-6C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000860872]|not provided [RCV001593064] |
Chr12:40310425 [GRCh38]
Chr12:40704227 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.4536+3A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000873745]|not provided [RCV001766781] |
Chr12:40310652 [GRCh38]
Chr12:40704454 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.75T>C (p.Asn25=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000914378]|Inborn genetic diseases [RCV002390903] |
Chr12:40225206 [GRCh38]
Chr12:40619008 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4881G>A (p.Ser1627=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000861560]|Inborn genetic diseases [RCV002336752]|LRRK2-related condition [RCV003965640]|not provided [RCV003392636] |
Chr12:40320041 [GRCh38]
Chr12:40713843 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6347A>G (p.Lys2116Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000804327]|Inborn genetic diseases [RCV002360969] |
Chr12:40348475 [GRCh38]
Chr12:40742277 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39580744-42470754)x3 |
copy number gain |
not provided [RCV001006496] |
Chr12:39580744..42470754 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.921A>G (p.Ala307=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001112703]|Inborn genetic diseases [RCV002375025] |
Chr12:40249908 [GRCh38]
Chr12:40643710 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.1211C>T (p.Ser404Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001208224] |
Chr12:40252939 [GRCh38]
Chr12:40646741 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5827C>T (p.Arg1943Trp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001222500]|Inborn genetic diseases [RCV002356947] |
Chr12:40335036 [GRCh38]
Chr12:40728838 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6087A>G (p.Ile2029Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001204306] |
Chr12:40340432 [GRCh38]
Chr12:40734234 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1721del (p.Pro574fs) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV001196686] |
Chr12:40274646 [GRCh38]
Chr12:40668448 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7475G>T (p.Cys2492Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001198894] |
Chr12:40367656 [GRCh38]
Chr12:40761458 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3778-7del |
deletion |
not provided [RCV003312227] |
Chr12:40305776 [GRCh38]
Chr12:40699578 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6448G>C (p.Val2150Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001198153] |
Chr12:40351605 [GRCh38]
Chr12:40745407 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5982C>T (p.Asp1994=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110197]|Inborn genetic diseases [RCV002355111] |
Chr12:40340327 [GRCh38]
Chr12:40734129 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6004C>G (p.Leu2002Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110198] |
Chr12:40340349 [GRCh38]
Chr12:40734151 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*497C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110294] |
Chr12:40368262 [GRCh38]
Chr12:40762064 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2808+232_2808+233insTATATATATATA |
microsatellite |
not provided [RCV001571766] |
Chr12:40293894..40293895 [GRCh38]
Chr12:40687696..40687697 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2500+211G>C |
single nucleotide variant |
not provided [RCV001568877] |
Chr12:40284344 [GRCh38]
Chr12:40678146 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2501-236T>C |
single nucleotide variant |
not provided [RCV001685842] |
Chr12:40287115 [GRCh38]
Chr12:40680917 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4318-182C>T |
single nucleotide variant |
not provided [RCV001553494] |
Chr12:40310249 [GRCh38]
Chr12:40704051 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.959-160C>T |
single nucleotide variant |
not provided [RCV001675208] |
Chr12:40251072 [GRCh38]
Chr12:40644874 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6381+52G>A |
single nucleotide variant |
not provided [RCV001638725] |
Chr12:40348561 [GRCh38]
Chr12:40742363 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3497-277T>G |
single nucleotide variant |
not provided [RCV001555043] |
Chr12:40302512 [GRCh38]
Chr12:40696314 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1942-272C>A |
single nucleotide variant |
not provided [RCV001598356] |
Chr12:40277616 [GRCh38]
Chr12:40671418 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.7029-87_7029-86insGCAT |
insertion |
not provided [RCV001615632] |
Chr12:40363312..40363313 [GRCh38]
Chr12:40757114..40757115 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.571+194T>G |
single nucleotide variant |
not provided [RCV001686898] |
Chr12:40238297 [GRCh38]
Chr12:40632099 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4827+83A>G |
single nucleotide variant |
not provided [RCV001681037] |
Chr12:40315383 [GRCh38]
Chr12:40709185 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4827+226G>A |
single nucleotide variant |
not provided [RCV001617919] |
Chr12:40315526 [GRCh38]
Chr12:40709328 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2808+234AT[10] |
microsatellite |
not provided [RCV001619633] |
Chr12:40293896..40293897 [GRCh38]
Chr12:40687698..40687699 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.958+323G>A |
single nucleotide variant |
not provided [RCV001534944] |
Chr12:40250268 [GRCh38]
Chr12:40644070 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2242-22C>T |
single nucleotide variant |
not provided [RCV001636294] |
Chr12:40283853 [GRCh38]
Chr12:40677655 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.839-160C>T |
single nucleotide variant |
not provided [RCV001659222] |
Chr12:40249666 [GRCh38]
Chr12:40643468 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5757+190A>G |
single nucleotide variant |
not provided [RCV001645543] |
Chr12:40328650 [GRCh38]
Chr12:40722452 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.436+231C>T |
single nucleotide variant |
not provided [RCV001593741] |
Chr12:40235945 [GRCh38]
Chr12:40629747 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2808+233C>T |
single nucleotide variant |
not provided [RCV001615642] |
Chr12:40293896 [GRCh38]
Chr12:40687698 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6843+206A>C |
single nucleotide variant |
not provided [RCV001556577] |
Chr12:40356393 [GRCh38]
Chr12:40750195 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5015+32A>G |
single nucleotide variant |
not provided [RCV001688874] |
Chr12:40320207 [GRCh38]
Chr12:40714009 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6281-206del |
deletion |
not provided [RCV001657355] |
Chr12:40348203 [GRCh38]
Chr12:40742005 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5016-51A>T |
single nucleotide variant |
not provided [RCV001595321] |
Chr12:40320983 [GRCh38]
Chr12:40714785 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.571+33T>C |
single nucleotide variant |
not provided [RCV001680082] |
Chr12:40238136 [GRCh38]
Chr12:40631938 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.959-282A>G |
single nucleotide variant |
not provided [RCV001649405] |
Chr12:40250950 [GRCh38]
Chr12:40644752 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3496+166A>C |
single nucleotide variant |
not provided [RCV001611402] |
Chr12:40299423 [GRCh38]
Chr12:40693225 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.437-44T>G |
single nucleotide variant |
not provided [RCV001557270] |
Chr12:40237925 [GRCh38]
Chr12:40631727 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.238-278G>T |
single nucleotide variant |
not provided [RCV001557556] |
Chr12:40231996 [GRCh38]
Chr12:40625798 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7391-177A>G |
single nucleotide variant |
not provided [RCV001562559] |
Chr12:40366829 [GRCh38]
Chr12:40760631 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7391-44T>C |
single nucleotide variant |
not provided [RCV001613660] |
Chr12:40366962 [GRCh38]
Chr12:40760764 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3347+306_3347+307insTATATATAAATA |
microsatellite |
not provided [RCV001586632] |
Chr12:40298796..40298797 [GRCh38]
Chr12:40692598..40692599 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1543+283C>A |
single nucleotide variant |
not provided [RCV001586633] |
Chr12:40259887 [GRCh38]
Chr12:40653689 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2808+233_2808+234del |
microsatellite |
not provided [RCV001716359] |
Chr12:40293894..40293895 [GRCh38]
Chr12:40687696..40687697 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5016-225G>A |
single nucleotide variant |
not provided [RCV001594335] |
Chr12:40320809 [GRCh38]
Chr12:40714611 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4739-169A>T |
single nucleotide variant |
not provided [RCV001652824] |
Chr12:40315043 [GRCh38]
Chr12:40708845 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2878+205A>G |
single nucleotide variant |
not provided [RCV001676638] |
Chr12:40295119 [GRCh38]
Chr12:40688921 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1289-333C>T |
single nucleotide variant |
not provided [RCV001575694] |
Chr12:40256915 [GRCh38]
Chr12:40650717 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2500+166C>T |
single nucleotide variant |
not provided [RCV001575695] |
Chr12:40284299 [GRCh38]
Chr12:40678101 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4828-31T>C |
single nucleotide variant |
not provided [RCV001711050] |
Chr12:40319957 [GRCh38]
Chr12:40713759 [GRCh37]
Chr12:12q12 |
benign |
| NC_000012.12:g.40224903G>A |
single nucleotide variant |
not provided [RCV001559524] |
Chr12:40224903 [GRCh38]
Chr12:40618705 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5948+202T>C |
single nucleotide variant |
not provided [RCV001588209] |
Chr12:40335359 [GRCh38]
Chr12:40729161 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2690-65A>T |
single nucleotide variant |
not provided [RCV001694961] |
Chr12:40293480 [GRCh38]
Chr12:40687282 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4739-92C>T |
single nucleotide variant |
not provided [RCV001686576] |
Chr12:40315120 [GRCh38]
Chr12:40708922 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.572-127T>C |
single nucleotide variant |
not provided [RCV001670565] |
Chr12:40240356 [GRCh38]
Chr12:40634158 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1181+250A>G |
single nucleotide variant |
not provided [RCV001616565] |
Chr12:40251794 [GRCh38]
Chr12:40645596 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5412A>G (p.Gly1804=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001464955]|Inborn genetic diseases [RCV002346134] |
Chr12:40322413 [GRCh38]
Chr12:40716215 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2017T>C (p.Leu673=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002548248]|Inborn genetic diseases [RCV003380793] |
Chr12:40277963 [GRCh38]
Chr12:40671765 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5154C>T (p.Tyr1718=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002547235]|Inborn genetic diseases [RCV002337002] |
Chr12:40321172 [GRCh38]
Chr12:40714974 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.888G>A (p.Val296=) |
single nucleotide variant |
not provided [RCV000909785] |
Chr12:40249875 [GRCh38]
Chr12:40643677 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000860815]|not provided [RCV001672962] |
Chr12:40367044 [GRCh38]
Chr12:40760846 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.4827+9C>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002064767]|not provided [RCV000874542] |
Chr12:40315309 [GRCh38]
Chr12:40709111 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.160T>C (p.Leu54=) |
single nucleotide variant |
Inborn genetic diseases [RCV002400010]|not provided [RCV000919077] |
Chr12:40225563 [GRCh38]
Chr12:40619365 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.114C>A (p.Ile38=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001493088]|Inborn genetic diseases [RCV002454104] |
Chr12:40225245 [GRCh38]
Chr12:40619047 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6900G>A (p.Leu2300=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001408215]|Inborn genetic diseases [RCV002372512] |
Chr12:40359316 [GRCh38]
Chr12:40753118 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2915A>G (p.Asp972Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000641026]|not provided [RCV001766377] |
Chr12:40295463 [GRCh38]
Chr12:40689265 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.177T>A (p.Asn59Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000641027] |
Chr12:40225580 [GRCh38]
Chr12:40619382 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity |
| Single allele |
duplication |
not provided [RCV000678002] |
Chr12:40159287..43138820 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4827+249T>C |
single nucleotide variant |
not provided [RCV001547007] |
Chr12:40315549 [GRCh38]
Chr12:40709351 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2284C>T (p.Leu762=) |
single nucleotide variant |
Inborn genetic diseases [RCV003298919]|not provided [RCV001531778] |
Chr12:40283917 [GRCh38]
Chr12:40677719 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3096+119G>A |
single nucleotide variant |
not provided [RCV001582075] |
Chr12:40295763 [GRCh38]
Chr12:40689565 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4190-137C>T |
single nucleotide variant |
not provided [RCV001644183] |
Chr12:40308969 [GRCh38]
Chr12:40702771 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1383T>C (p.Ser461=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114060]|Inborn genetic diseases [RCV002381910]|LRRK2-related condition [RCV003965641]|not provided [RCV000861586] |
Chr12:40257342 [GRCh38]
Chr12:40651144 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3590+188T>C |
single nucleotide variant |
not provided [RCV001693059] |
Chr12:40303070 [GRCh38]
Chr12:40696872 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4189+155C>T |
single nucleotide variant |
not provided [RCV001546833] |
Chr12:40308851 [GRCh38]
Chr12:40702653 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3348-188A>G |
single nucleotide variant |
not provided [RCV001708448] |
Chr12:40298921 [GRCh38]
Chr12:40692723 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1419-286C>T |
single nucleotide variant |
not provided [RCV001564447] |
Chr12:40259194 [GRCh38]
Chr12:40652996 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6577-292G>C |
single nucleotide variant |
not provided [RCV001581413] |
Chr12:40354007 [GRCh38]
Chr12:40747809 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.699G>A (p.Ala233=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000871333]|Inborn genetic diseases [RCV002363273] |
Chr12:40240610 [GRCh38]
Chr12:40634412 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.693C>T (p.Ser231=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001469782]|Inborn genetic diseases [RCV002363454] |
Chr12:40240604 [GRCh38]
Chr12:40634406 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4827+6T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001402322] |
Chr12:40315306 [GRCh38]
Chr12:40709108 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6423G>A (p.Thr2141=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001426456]|Inborn genetic diseases [RCV002363272] |
Chr12:40351580 [GRCh38]
Chr12:40745382 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.364C>T (p.Leu122=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000876776]|Inborn genetic diseases [RCV002454044]|not provided [RCV001311805] |
Chr12:40235642 [GRCh38]
Chr12:40629444 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.1006C>A (p.Gln336Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003311233] |
Chr12:40251279 [GRCh38]
Chr12:40645081 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6482A>G (p.Asn2161Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003311234] |
Chr12:40351639 [GRCh38]
Chr12:40745441 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6281-205A>C |
single nucleotide variant |
not provided [RCV001643363] |
Chr12:40348204 [GRCh38]
Chr12:40742006 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6844-49C>T |
single nucleotide variant |
not provided [RCV001581736] |
Chr12:40359211 [GRCh38]
Chr12:40753013 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.-91C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001113967] |
Chr12:40225041 [GRCh38]
Chr12:40618843 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1260T>C (p.Asn420=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114059] |
Chr12:40252988 [GRCh38]
Chr12:40646790 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1095C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001113030] |
Chr12:40368860 [GRCh38]
Chr12:40762662 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7573T>C (p.Ser2525Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001112955] |
Chr12:40367754 [GRCh38]
Chr12:40761556 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.606C>T (p.Asn202=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110719]|Inborn genetic diseases [RCV002355113] |
Chr12:40240517 [GRCh38]
Chr12:40634319 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.2864C>T (p.Ser955Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110806] |
Chr12:40294900 [GRCh38]
Chr12:40688702 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.*908A>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001111047] |
Chr12:40368673 [GRCh38]
Chr12:40762475 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.102G>C (p.Thr34=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001109926]|Inborn genetic diseases [RCV002379650] |
Chr12:40225233 [GRCh38]
Chr12:40619035 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.1655G>A (p.Arg552Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110022]|Inborn genetic diseases [RCV002402500] |
Chr12:40263900 [GRCh38]
Chr12:40657702 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3347+286AT[11] |
microsatellite |
not provided [RCV001569379] |
Chr12:40298778..40298779 [GRCh38]
Chr12:40692580..40692581 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.707-58C>T |
single nucleotide variant |
not provided [RCV001569396] |
Chr12:40243492 [GRCh38]
Chr12:40637294 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.347A>G (p.Gln116Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002073376]|not provided [RCV001720860] |
Chr12:40232383 [GRCh38]
Chr12:40626185 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.1740A>T (p.Leu580Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002072958]|not provided [RCV001638974] |
Chr12:40274666 [GRCh38]
Chr12:40668468 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6281-138C>T |
single nucleotide variant |
not provided [RCV001687033] |
Chr12:40348271 [GRCh38]
Chr12:40742073 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4828-230T>G |
single nucleotide variant |
not provided [RCV001615444] |
Chr12:40319758 [GRCh38]
Chr12:40713560 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3347+286AT[9] |
microsatellite |
not provided [RCV001659288] |
Chr12:40298779..40298780 [GRCh38]
Chr12:40692581..40692582 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2501-212A>G |
single nucleotide variant |
not provided [RCV001649807] |
Chr12:40287139 [GRCh38]
Chr12:40680941 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.7463-131A>T |
single nucleotide variant |
not provided [RCV001654655] |
Chr12:40367513 [GRCh38]
Chr12:40761315 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3960-310A>T |
single nucleotide variant |
not provided [RCV001592472] |
Chr12:40308157 [GRCh38]
Chr12:40701959 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4611G>A (p.Glu1537=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV000910508]|Inborn genetic diseases [RCV002336897] |
Chr12:40314046 [GRCh38]
Chr12:40707848 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.2333G>A (p.Ser778Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001203130]|Inborn genetic diseases [RCV003163532] |
Chr12:40283966 [GRCh38]
Chr12:40677768 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6563G>C (p.Gly2188Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001049352] |
Chr12:40351720 [GRCh38]
Chr12:40745522 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4318-211G>A |
single nucleotide variant |
not provided [RCV001582261] |
Chr12:40310220 [GRCh38]
Chr12:40704022 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2771G>A (p.Arg924His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001858747]|not provided [RCV000992287] |
Chr12:40293626 [GRCh38]
Chr12:40687428 [GRCh37]
Chr12:12q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.825T>C (p.His275=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110720]|Inborn genetic diseases [RCV002427443]|LRRK2-related condition [RCV003962969]|not provided [RCV000992288] |
Chr12:40243668 [GRCh38]
Chr12:40637470 [GRCh37]
Chr12:12q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.1224T>G (p.His408Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114058]|Inborn genetic diseases [RCV002556228] |
Chr12:40252952 [GRCh38]
Chr12:40646754 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5799A>T (p.Ile1933=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114232]|Inborn genetic diseases [RCV002355114]|not provided [RCV001531779] |
Chr12:40335008 [GRCh38]
Chr12:40728810 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.839-4T>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001112702] |
Chr12:40249822 [GRCh38]
Chr12:40643624 [GRCh37]
Chr12:12q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.3935G>A (p.Gly1312Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001237091]|Inborn genetic diseases [RCV003380921] |
Chr12:40305942 [GRCh38]
Chr12:40699744 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6175T>C (p.Phe2059Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001235369]|Inborn genetic diseases [RCV003166452] |
Chr12:40346818 [GRCh38]
Chr12:40740620 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6382-5C>A |
single nucleotide variant |
not provided [RCV000934288] |
Chr12:40351534 [GRCh38]
Chr12:40745336 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6384C>G (p.Val2128=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002065811]|Inborn genetic diseases [RCV002354745] |
Chr12:40351541 [GRCh38]
Chr12:40745343 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1181+244T>C |
single nucleotide variant |
not provided [RCV001550942] |
Chr12:40251788 [GRCh38]
Chr12:40645590 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6844-9_6844-8dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV002072134]|not provided [RCV001562689] |
Chr12:40359242..40359243 [GRCh38]
Chr12:40753044..40753045 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.6280+110T>G |
single nucleotide variant |
not provided [RCV001595421] |
Chr12:40347033 [GRCh38]
Chr12:40740835 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4453T>G (p.Tyr1485Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001563597] |
Chr12:40310566 [GRCh38]
Chr12:40704368 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6280+111del |
deletion |
not provided [RCV001595619] |
Chr12:40347027 [GRCh38]
Chr12:40740829 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6843+229T>A |
single nucleotide variant |
not provided [RCV001559472] |
Chr12:40356416 [GRCh38]
Chr12:40750218 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2689+73A>G |
single nucleotide variant |
not provided [RCV001593913] |
Chr12:40287612 [GRCh38]
Chr12:40681414 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6576+242A>T |
single nucleotide variant |
not provided [RCV001552925] |
Chr12:40351975 [GRCh38]
Chr12:40745777 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2808+232_2808+233insTATA |
insertion |
not provided [RCV001559643] |
Chr12:40293894..40293895 [GRCh38]
Chr12:40687696..40687697 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4862_4863delinsTA (p.His1621Leu) |
indel |
Autosomal dominant Parkinson disease 8 [RCV002568291]|not provided [RCV001547489] |
Chr12:40320022..40320023 [GRCh38]
Chr12:40713824..40713825 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7015A>G (p.Arg2339Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002471382] |
Chr12:40359431 [GRCh38]
Chr12:40753233 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.309G>C (p.Gln103His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001066078] |
Chr12:40232345 [GRCh38]
Chr12:40626147 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3347+306_3347+307insTAAA |
insertion |
not provided [RCV001541192] |
Chr12:40298798..40298799 [GRCh38]
Chr12:40692600..40692601 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.7182-27T>G |
single nucleotide variant |
not provided [RCV001618059] |
Chr12:40364815 [GRCh38]
Chr12:40758617 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1656+68C>G |
single nucleotide variant |
not provided [RCV001659221] |
Chr12:40263969 [GRCh38]
Chr12:40657771 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1543+307C>T |
single nucleotide variant |
not provided [RCV001639583] |
Chr12:40259911 [GRCh38]
Chr12:40653713 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6280+222A>G |
single nucleotide variant |
not provided [RCV001688772] |
Chr12:40347145 [GRCh38]
Chr12:40740947 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5510-268A>G |
single nucleotide variant |
not provided [RCV001695933] |
Chr12:40322892 [GRCh38]
Chr12:40716694 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1544-54A>G |
single nucleotide variant |
not provided [RCV001595880] |
Chr12:40263735 [GRCh38]
Chr12:40657537 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.7029-9del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV002071893]|not provided [RCV001685430]|not specified [RCV001529252] |
Chr12:40363385 [GRCh38]
Chr12:40757187 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5509+325_5510-324del |
deletion |
not provided [RCV001597703] |
Chr12:40322835..40322836 [GRCh38]
Chr12:40716637..40716638 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.237+100A>G |
single nucleotide variant |
not provided [RCV001652246] |
Chr12:40225740 [GRCh38]
Chr12:40619542 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5015+289T>C |
single nucleotide variant |
not provided [RCV001658563] |
Chr12:40320464 [GRCh38]
Chr12:40714266 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3591-273C>T |
single nucleotide variant |
not provided [RCV001660886] |
Chr12:40303675 [GRCh38]
Chr12:40697477 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6577-172C>T |
single nucleotide variant |
not provided [RCV001660893] |
Chr12:40354127 [GRCh38]
Chr12:40747929 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2808+189A>G |
single nucleotide variant |
not provided [RCV001656837] |
Chr12:40293852 [GRCh38]
Chr12:40687654 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3960-105C>T |
single nucleotide variant |
not provided [RCV001656163] |
Chr12:40308362 [GRCh38]
Chr12:40702164 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4739-122T>C |
single nucleotide variant |
not provided [RCV001676986] |
Chr12:40315090 [GRCh38]
Chr12:40708892 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6770+101G>A |
single nucleotide variant |
not provided [RCV001658905] |
Chr12:40354593 [GRCh38]
Chr12:40748395 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5949-39A>G |
single nucleotide variant |
not provided [RCV001693903] |
Chr12:40340255 [GRCh38]
Chr12:40734057 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3097-134T>G |
single nucleotide variant |
not provided [RCV001710189] |
Chr12:40298109 [GRCh38]
Chr12:40691911 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5657-81A>G |
single nucleotide variant |
not provided [RCV001592488] |
Chr12:40328279 [GRCh38]
Chr12:40722081 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.437-145AACA[5] |
microsatellite |
not provided [RCV001595263] |
Chr12:40237824..40237827 [GRCh38]
Chr12:40631626..40631629 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5015+290G>T |
single nucleotide variant |
not provided [RCV001678409] |
Chr12:40320465 [GRCh38]
Chr12:40714267 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4317+3G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110112] |
Chr12:40309236 [GRCh38]
Chr12:40703038 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5828G>A (p.Arg1943Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110196] |
Chr12:40335037 [GRCh38]
Chr12:40728839 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1042A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001113029] |
Chr12:40368807 [GRCh38]
Chr12:40762609 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2513C>A (p.Thr838Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001050163] |
Chr12:40287363 [GRCh38]
Chr12:40681165 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1165C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001113031] |
Chr12:40368930 [GRCh38]
Chr12:40762732 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2248G>A (p.Glu750Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003160612]|not provided [RCV001093216] |
Chr12:40283881 [GRCh38]
Chr12:40677683 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.-74C>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001109925] |
Chr12:40225058 [GRCh38]
Chr12:40618860 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.228T>C (p.Ser76=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001109928] |
Chr12:40225631 [GRCh38]
Chr12:40619433 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6583G>T (p.Ala2195Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110950] |
Chr12:40354305 [GRCh38]
Chr12:40748107 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7036T>C (p.Tyr2346His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110951] |
Chr12:40363409 [GRCh38]
Chr12:40757211 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.*751C>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001111045] |
Chr12:40368516 [GRCh38]
Chr12:40762318 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*769T>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001111046] |
Chr12:40368534 [GRCh38]
Chr12:40762336 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*942T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001111048] |
Chr12:40368707 [GRCh38]
Chr12:40762509 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4537-126A>G |
single nucleotide variant |
not provided [RCV001691913] |
Chr12:40313846 [GRCh38]
Chr12:40707648 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5015+211G>A |
single nucleotide variant |
not provided [RCV001713713] |
Chr12:40320386 [GRCh38]
Chr12:40714188 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.958+299A>C |
single nucleotide variant |
not provided [RCV001724451] |
Chr12:40250244 [GRCh38]
Chr12:40644046 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6844-73G>A |
single nucleotide variant |
not provided [RCV001690998] |
Chr12:40359187 [GRCh38]
Chr12:40752989 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5509+162T>C |
single nucleotide variant |
not provided [RCV001684965] |
Chr12:40322672 [GRCh38]
Chr12:40716474 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4317+117C>A |
single nucleotide variant |
not provided [RCV001693226] |
Chr12:40309350 [GRCh38]
Chr12:40703152 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6382-37C>T |
single nucleotide variant |
not provided [RCV001541794] |
Chr12:40351502 [GRCh38]
Chr12:40745304 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4828-195T>C |
single nucleotide variant |
not provided [RCV001681940] |
Chr12:40319793 [GRCh38]
Chr12:40713595 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.437-163G>A |
single nucleotide variant |
not provided [RCV001695515] |
Chr12:40237806 [GRCh38]
Chr12:40631608 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1181+284G>A |
single nucleotide variant |
not provided [RCV001650185] |
Chr12:40251828 [GRCh38]
Chr12:40645630 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5170+312G>A |
single nucleotide variant |
not provided [RCV001616699] |
Chr12:40321500 [GRCh38]
Chr12:40715302 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1418+72A>G |
single nucleotide variant |
not provided [RCV001616841] |
Chr12:40257449 [GRCh38]
Chr12:40651251 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.959-216dup |
duplication |
not provided [RCV001609090] |
Chr12:40251002..40251003 [GRCh38]
Chr12:40644804..40644805 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5757+287C>A |
single nucleotide variant |
not provided [RCV001672180] |
Chr12:40328747 [GRCh38]
Chr12:40722549 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2242-93G>T |
single nucleotide variant |
not provided [RCV001724539] |
Chr12:40283782 [GRCh38]
Chr12:40677584 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6281-206T>C |
single nucleotide variant |
not provided [RCV001668003] |
Chr12:40348203 [GRCh38]
Chr12:40742005 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6844-241TTG[4] |
microsatellite |
not provided [RCV001614195] |
Chr12:40359019..40359021 [GRCh38]
Chr12:40752821..40752823 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.959-216del |
deletion |
not provided [RCV001584643] |
Chr12:40251003 [GRCh38]
Chr12:40644805 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5757+195G>A |
single nucleotide variant |
not provided [RCV001691407] |
Chr12:40328655 [GRCh38]
Chr12:40722457 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6110-190G>T |
single nucleotide variant |
not provided [RCV001666187] |
Chr12:40346563 [GRCh38]
Chr12:40740365 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.347+45T>C |
single nucleotide variant |
not provided [RCV001710817] |
Chr12:40232428 [GRCh38]
Chr12:40626230 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2879-44A>G |
single nucleotide variant |
not provided [RCV001583608] |
Chr12:40295383 [GRCh38]
Chr12:40689185 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5758-143A>T |
single nucleotide variant |
not provided [RCV001583645] |
Chr12:40334824 [GRCh38]
Chr12:40728626 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6770+253A>G |
single nucleotide variant |
not provided [RCV001615973] |
Chr12:40354745 [GRCh38]
Chr12:40748547 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5657-46C>T |
single nucleotide variant |
not provided [RCV001590097] |
Chr12:40328314 [GRCh38]
Chr12:40722116 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3347+286AT[15] |
microsatellite |
not provided [RCV001681513] |
Chr12:40298778..40298779 [GRCh38]
Chr12:40692580..40692581 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3777+257A>T |
single nucleotide variant |
not provided [RCV001588239] |
Chr12:40304391 [GRCh38]
Chr12:40698193 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1802-11dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV002072984]|not provided [RCV001643853] |
Chr12:40274834..40274835 [GRCh38]
Chr12:40668636..40668637 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.571+195C>T |
single nucleotide variant |
not provided [RCV001708198] |
Chr12:40238298 [GRCh38]
Chr12:40632100 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.7463-88A>G |
single nucleotide variant |
not provided [RCV001682451] |
Chr12:40367556 [GRCh38]
Chr12:40761358 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4828-202del |
deletion |
not provided [RCV001530778] |
Chr12:40319785 [GRCh38]
Chr12:40713587 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4310A>G (p.Asn1437Ser) |
single nucleotide variant |
not provided [RCV001093217] |
Chr12:40309226 [GRCh38]
Chr12:40703028 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_198578.4(LRRK2):c.2500+6T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001206298] |
Chr12:40284139 [GRCh38]
Chr12:40677941 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1030G>A (p.Glu344Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001237188] |
Chr12:40251303 [GRCh38]
Chr12:40645105 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.382A>G (p.Ser128Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001042763] |
Chr12:40235660 [GRCh38]
Chr12:40629462 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2025A>G (p.Ile675Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001051312] |
Chr12:40277971 [GRCh38]
Chr12:40671773 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4327T>G (p.Ser1443Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001047559]|LRRK2-related condition [RCV003396657] |
Chr12:40310440 [GRCh38]
Chr12:40704242 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3615C>G (p.Ser1205Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114151]|Inborn genetic diseases [RCV002451324] |
Chr12:40303972 [GRCh38]
Chr12:40697774 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1382G>T (p.Ser461Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001230301] |
Chr12:40257341 [GRCh38]
Chr12:40651143 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*308A>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114313] |
Chr12:40368073 [GRCh38]
Chr12:40761875 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4468G>A (p.Ala1490Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001304299] |
Chr12:40310581 [GRCh38]
Chr12:40704383 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4132A>G (p.Ile1378Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001349443]|Inborn genetic diseases [RCV002329341] |
Chr12:40308639 [GRCh38]
Chr12:40702441 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:40678619-43945453)x4 |
copy number gain |
not provided [RCV001259137] |
Chr12:40678619..43945453 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:40476826-41337435)x3 |
copy number gain |
not provided [RCV001259139] |
Chr12:40476826..41337435 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3901G>A (p.Glu1301Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001314427] |
Chr12:40305908 [GRCh38]
Chr12:40699710 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6589A>G (p.Ser2197Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001309132] |
Chr12:40354311 [GRCh38]
Chr12:40748113 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.437-38A>C |
single nucleotide variant |
not provided [RCV001787477] |
Chr12:40237931 [GRCh38]
Chr12:40631733 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6584_6586del (p.Ala2195del) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV001359739] |
Chr12:40354304..40354306 [GRCh38]
Chr12:40748106..40748108 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.436+271A>T |
single nucleotide variant |
not provided [RCV001538769] |
Chr12:40235985 [GRCh38]
Chr12:40629787 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.605A>G (p.Asn202Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001346512]|Inborn genetic diseases [RCV002357189] |
Chr12:40240516 [GRCh38]
Chr12:40634318 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7570A>G (p.Thr2524Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001347098] |
Chr12:40367751 [GRCh38]
Chr12:40761553 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4203C>T (p.Phe1401=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001413729]|Inborn genetic diseases [RCV002329449] |
Chr12:40309119 [GRCh38]
Chr12:40702921 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3184A>C (p.Asn1062His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001314697] |
Chr12:40298330 [GRCh38]
Chr12:40692132 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 |
copy number gain |
See cases [RCV001353185] |
Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12 |
likely pathogenic |
| NM_198578.4(LRRK2):c.4162C>A (p.Leu1388Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001494263] |
Chr12:40308669 [GRCh38]
Chr12:40702471 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7320A>G (p.Ser2440=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001510818]|Inborn genetic diseases [RCV002384860] |
Chr12:40364980 [GRCh38]
Chr12:40758782 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.5080C>T (p.Leu1694=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001520735]|Inborn genetic diseases [RCV002334569] |
Chr12:40321098 [GRCh38]
Chr12:40714900 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.6714A>T (p.Leu2238=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001488377]|Inborn genetic diseases [RCV002368497] |
Chr12:40354436 [GRCh38]
Chr12:40748238 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5838G>A (p.Val1946=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001443556] |
Chr12:40335047 [GRCh38]
Chr12:40728849 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5550T>C (p.Ile1850=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001417360] |
Chr12:40323200 [GRCh38]
Chr12:40717002 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1980A>G (p.Ala660=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001442726]|Inborn genetic diseases [RCV002421001] |
Chr12:40277926 [GRCh38]
Chr12:40671728 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6382-8T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001490075] |
Chr12:40351531 [GRCh38]
Chr12:40745333 [GRCh37]
Chr12:12q12 |
likely benign |
| NC_000012.12:g.40224884T>C |
single nucleotide variant |
not provided [RCV001725384] |
Chr12:40224884 [GRCh38]
Chr12:40618686 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1288+9T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001490423] |
Chr12:40253025 [GRCh38]
Chr12:40646827 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7029-41A>G |
single nucleotide variant |
not provided [RCV001694930] |
Chr12:40363361 [GRCh38]
Chr12:40757163 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2689+145A>G |
single nucleotide variant |
not provided [RCV001670829] |
Chr12:40287684 [GRCh38]
Chr12:40681486 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4537-276dup |
duplication |
not provided [RCV001673777] |
Chr12:40313687..40313688 [GRCh38]
Chr12:40707489..40707490 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.436+38A>T |
single nucleotide variant |
not provided [RCV001695213] |
Chr12:40235752 [GRCh38]
Chr12:40629554 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5170+258T>C |
single nucleotide variant |
not provided [RCV001707382] |
Chr12:40321446 [GRCh38]
Chr12:40715248 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5948+48C>T |
single nucleotide variant |
not provided [RCV001655096] |
Chr12:40335205 [GRCh38]
Chr12:40729007 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.436+120T>A |
single nucleotide variant |
not provided [RCV001536264] |
Chr12:40235834 [GRCh38]
Chr12:40629636 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2808+232_2808+233insTA |
insertion |
not provided [RCV001671454] |
Chr12:40293894..40293895 [GRCh38]
Chr12:40687696..40687697 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5948+34T>C |
single nucleotide variant |
not provided [RCV001539078] |
Chr12:40335191 [GRCh38]
Chr12:40728993 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3347+306_3347+307insTATATAAATA |
microsatellite |
not provided [RCV001686718] |
Chr12:40298796..40298797 [GRCh38]
Chr12:40692598..40692599 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2879-24TTGT[2] |
microsatellite |
not provided [RCV001687135] |
Chr12:40295403..40295406 [GRCh38]
Chr12:40689205..40689208 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1288+130G>A |
single nucleotide variant |
not provided [RCV001617960] |
Chr12:40253146 [GRCh38]
Chr12:40646948 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4317+53GT[10] |
microsatellite |
not provided [RCV001687869] |
Chr12:40309285..40309286 [GRCh38]
Chr12:40703087..40703088 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2501-96C>T |
single nucleotide variant |
not provided [RCV001687193] |
Chr12:40287255 [GRCh38]
Chr12:40681057 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1656+171A>G |
single nucleotide variant |
not provided [RCV001587651] |
Chr12:40264072 [GRCh38]
Chr12:40657874 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7462+128A>G |
single nucleotide variant |
not provided [RCV001652402] |
Chr12:40367205 [GRCh38]
Chr12:40761007 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3096+142C>T |
single nucleotide variant |
not provided [RCV001678919] |
Chr12:40295786 [GRCh38]
Chr12:40689588 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.7028+57A>G |
single nucleotide variant |
not provided [RCV001716452] |
Chr12:40359501 [GRCh38]
Chr12:40753303 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2690-312C>T |
single nucleotide variant |
not provided [RCV001674614] |
Chr12:40293233 [GRCh38]
Chr12:40687035 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3993T>G (p.Pro1331=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001504880]|Inborn genetic diseases [RCV002377882]|not provided [RCV003389880] |
Chr12:40308500 [GRCh38]
Chr12:40702302 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1404T>C (p.His468=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001496858]|Inborn genetic diseases [RCV003355498] |
Chr12:40257363 [GRCh38]
Chr12:40651165 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5657-9T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002104388] |
Chr12:40328351 [GRCh38]
Chr12:40722153 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7510G>C (p.Val2504Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002388651]|not provided [RCV001771594] |
Chr12:40367691 [GRCh38]
Chr12:40761493 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4943A>G (p.Gln1648Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001882864]|not provided [RCV001767175] |
Chr12:40320103 [GRCh38]
Chr12:40713905 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.478T>A (p.Phe160Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001868594]|Inborn genetic diseases [RCV002329738]|not provided [RCV001763847] |
Chr12:40238010 [GRCh38]
Chr12:40631812 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1817G>A (p.Gly606Asp) |
single nucleotide variant |
not provided [RCV001751879] |
Chr12:40274869 [GRCh38]
Chr12:40668671 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5725A>T (p.Asn1909Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002343834]|not provided [RCV001771293] |
Chr12:40328428 [GRCh38]
Chr12:40722230 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3554T>C (p.Phe1185Ser) |
single nucleotide variant |
not provided [RCV001800047] |
Chr12:40302846 [GRCh38]
Chr12:40696648 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7374G>C (p.Met2458Ile) |
single nucleotide variant |
not provided [RCV001758049] |
Chr12:40365034 [GRCh38]
Chr12:40758836 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.350T>G (p.Leu117Trp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002008469] |
Chr12:40235628 [GRCh38]
Chr12:40629430 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4985T>C (p.Ile1662Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002044893]|Inborn genetic diseases [RCV002334734] |
Chr12:40320145 [GRCh38]
Chr12:40713947 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4738+3_4738+6del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV001895016] |
Chr12:40314174..40314177 [GRCh38]
Chr12:40707976..40707979 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6752A>C (p.Asn2251Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001915473] |
Chr12:40354474 [GRCh38]
Chr12:40748276 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.93_94del (p.Gln31fs) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV001970862] |
Chr12:40225223..40225224 [GRCh38]
Chr12:40619025..40619026 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7382C>T (p.Ala2461Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002025277] |
Chr12:40365042 [GRCh38]
Chr12:40758844 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3812C>T (p.Thr1271Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001891741] |
Chr12:40305819 [GRCh38]
Chr12:40699621 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4536+20G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002024876] |
Chr12:40310669 [GRCh38]
Chr12:40704471 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3071C>T (p.Thr1024Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001863874]|Inborn genetic diseases [RCV002547949] |
Chr12:40295619 [GRCh38]
Chr12:40689421 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3091T>C (p.Cys1031Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001864244] |
Chr12:40295639 [GRCh38]
Chr12:40689441 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4821G>A (p.Met1607Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002045244]|Inborn genetic diseases [RCV002337127] |
Chr12:40315294 [GRCh38]
Chr12:40709096 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1874A>G (p.His625Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001983654] |
Chr12:40274926 [GRCh38]
Chr12:40668728 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4117G>A (p.Val1373Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001908364] |
Chr12:40308624 [GRCh38]
Chr12:40702426 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3999C>A (p.Asn1333Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001911672] |
Chr12:40308506 [GRCh38]
Chr12:40702308 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3391C>A (p.Leu1131Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001945847] |
Chr12:40299152 [GRCh38]
Chr12:40692954 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7028+2T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001967123] |
Chr12:40359446 [GRCh38]
Chr12:40753248 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2204C>A (p.Ala735Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002039704] |
Chr12:40278224 [GRCh38]
Chr12:40672026 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7315C>A (p.Leu2439Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001889669] |
Chr12:40364975 [GRCh38]
Chr12:40758777 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:40213704-40774519) |
copy number gain |
not specified [RCV002052991] |
Chr12:40213704..40774519 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5554A>G (p.Ile1852Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001909707] |
Chr12:40323204 [GRCh38]
Chr12:40717006 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.500T>G (p.Met167Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001895345] |
Chr12:40238032 [GRCh38]
Chr12:40631834 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1910G>A (p.Arg637Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001891571]|Inborn genetic diseases [RCV002407021] |
Chr12:40274962 [GRCh38]
Chr12:40668764 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1787A>G (p.Tyr596Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001968207]|Inborn genetic diseases [RCV003303507] |
Chr12:40274713 [GRCh38]
Chr12:40668515 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7146A>C (p.Lys2382Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002007937]|Inborn genetic diseases [RCV002361336] |
Chr12:40363519 [GRCh38]
Chr12:40757321 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.959-5T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002023393] |
Chr12:40251227 [GRCh38]
Chr12:40645029 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) |
copy number gain |
not specified [RCV002052988] |
Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12 |
pathogenic |
| NM_198578.4(LRRK2):c.1015G>C (p.Asp339His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002007701] |
Chr12:40251288 [GRCh38]
Chr12:40645090 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2964C>A (p.Asp988Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001892556] |
Chr12:40295512 [GRCh38]
Chr12:40689314 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3443T>C (p.Phe1148Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002023501]|Inborn genetic diseases [RCV002454304] |
Chr12:40299204 [GRCh38]
Chr12:40693006 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4046C>T (p.Thr1349Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001965376]|Inborn genetic diseases [RCV002324380] |
Chr12:40308553 [GRCh38]
Chr12:40702355 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6928A>G (p.Thr2310Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001914204]|not provided [RCV002511114] |
Chr12:40359344 [GRCh38]
Chr12:40753146 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.3946A>G (p.Lys1316Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001892133] |
Chr12:40305953 [GRCh38]
Chr12:40699755 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5182C>T (p.Arg1728Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002023898]|not provided [RCV002224138] |
Chr12:40322046 [GRCh38]
Chr12:40715848 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39598809-41141181) |
copy number gain |
not specified [RCV002052990] |
Chr12:39598809..41141181 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5684G>A (p.Arg1895Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002023805]|Inborn genetic diseases [RCV002346303] |
Chr12:40328387 [GRCh38]
Chr12:40722189 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7324C>T (p.Arg2442Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001888146] |
Chr12:40364984 [GRCh38]
Chr12:40758786 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2906G>A (p.Arg969Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002039063] |
Chr12:40295454 [GRCh38]
Chr12:40689256 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.868G>A (p.Glu290Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001923261] |
Chr12:40249855 [GRCh38]
Chr12:40643657 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4306T>C (p.Phe1436Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001918296] |
Chr12:40309222 [GRCh38]
Chr12:40703024 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.572-14C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002033779] |
Chr12:40240469 [GRCh38]
Chr12:40634271 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.539G>C (p.Gly180Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001982460] |
Chr12:40238071 [GRCh38]
Chr12:40631873 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.158A>G (p.Lys53Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001979694] |
Chr12:40225561 [GRCh38]
Chr12:40619363 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.526G>C (p.Val176Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001904924] |
Chr12:40238058 [GRCh38]
Chr12:40631860 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1975T>A (p.Ser659Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001934567] |
Chr12:40277921 [GRCh38]
Chr12:40671723 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4617A>T (p.Lys1539Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001901430]|Inborn genetic diseases [RCV002334853] |
Chr12:40314052 [GRCh38]
Chr12:40707854 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2124A>T (p.Leu708Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001905236]|Inborn genetic diseases [RCV002422917] |
Chr12:40278144 [GRCh38]
Chr12:40671946 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.784A>G (p.Met262Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001882178]|Inborn genetic diseases [RCV003303308] |
Chr12:40243627 [GRCh38]
Chr12:40637429 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.3087G>T (p.Gln1029His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001882206] |
Chr12:40295635 [GRCh38]
Chr12:40689437 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2821G>T (p.Asp941Tyr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001933880]|Inborn genetic diseases [RCV002441056] |
Chr12:40294857 [GRCh38]
Chr12:40688659 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1154A>G (p.His385Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001932450] |
Chr12:40251517 [GRCh38]
Chr12:40645319 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.334C>T (p.Leu112Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001919135] |
Chr12:40232370 [GRCh38]
Chr12:40626172 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5817G>T (p.Gly1939=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001958378] |
Chr12:40335026 [GRCh38]
Chr12:40728828 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5417C>T (p.Thr1806Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001935113] |
Chr12:40322418 [GRCh38]
Chr12:40716220 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7366A>G (p.Arg2456Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001976969] |
Chr12:40365026 [GRCh38]
Chr12:40758828 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2653A>G (p.Ser885Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002010728]|Inborn genetic diseases [RCV002458964] |
Chr12:40287503 [GRCh38]
Chr12:40681305 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4391C>G (p.Ala1464Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001988897] |
Chr12:40310504 [GRCh38]
Chr12:40704306 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3846A>T (p.Arg1282Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001875246]|not provided [RCV002511106] |
Chr12:40305853 [GRCh38]
Chr12:40699655 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.6806A>G (p.Asp2269Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002012445] |
Chr12:40356150 [GRCh38]
Chr12:40749952 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5509G>A (p.Gly1837Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002047719] |
Chr12:40322510 [GRCh38]
Chr12:40716312 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2714A>T (p.Lys905Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001977200]|Inborn genetic diseases [RCV003170276] |
Chr12:40293569 [GRCh38]
Chr12:40687371 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2384C>T (p.Ala795Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001956796] |
Chr12:40284017 [GRCh38]
Chr12:40677819 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5896C>T (p.Leu1966Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001932196] |
Chr12:40335105 [GRCh38]
Chr12:40728907 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.212A>G (p.Tyr71Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002033596] |
Chr12:40225615 [GRCh38]
Chr12:40619417 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1310T>C (p.Leu437Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001933706] |
Chr12:40257269 [GRCh38]
Chr12:40651071 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2500+5_2500+8del |
microsatellite |
Autosomal dominant Parkinson disease 8 [RCV001883277] |
Chr12:40284132..40284135 [GRCh38]
Chr12:40677934..40677937 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3823G>A (p.Val1275Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001877807]|Inborn genetic diseases [RCV002359333] |
Chr12:40305830 [GRCh38]
Chr12:40699632 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1546A>G (p.Met516Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001935463]|Inborn genetic diseases [RCV002397887] |
Chr12:40263791 [GRCh38]
Chr12:40657593 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.2234T>C (p.Ile745Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001957922]|Inborn genetic diseases [RCV002425290] |
Chr12:40278254 [GRCh38]
Chr12:40672056 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1937_1940del (p.Thr646fs) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV001924054] |
Chr12:40274988..40274991 [GRCh38]
Chr12:40668790..40668793 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3347+6A>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001930399] |
Chr12:40298499 [GRCh38]
Chr12:40692301 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.368C>T (p.Thr123Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001961177] |
Chr12:40235646 [GRCh38]
Chr12:40629448 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.531G>C (p.Gln177His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001938246] |
Chr12:40238063 [GRCh38]
Chr12:40631865 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1324C>T (p.His442Tyr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002012712]|Inborn genetic diseases [RCV002386863] |
Chr12:40257283 [GRCh38]
Chr12:40651085 [GRCh37]
Chr12:12q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198578.4(LRRK2):c.2200G>A (p.Asp734Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002035991] |
Chr12:40278220 [GRCh38]
Chr12:40672022 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3595C>T (p.Arg1199Trp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001936667]|Inborn genetic diseases [RCV002458853] |
Chr12:40303952 [GRCh38]
Chr12:40697754 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5402G>T (p.Cys1801Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001996960]|Inborn genetic diseases [RCV003170122] |
Chr12:40322403 [GRCh38]
Chr12:40716205 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3368G>T (p.Cys1123Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002011322] |
Chr12:40299129 [GRCh38]
Chr12:40692931 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.*1402G>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114413]|not provided [RCV002275286] |
Chr12:40369167 [GRCh38]
Chr12:40762969 [GRCh37]
Chr12:12q12 |
benign|uncertain significance |
| NM_198578.4(LRRK2):c.*1429C>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001114414] |
Chr12:40369194 [GRCh38]
Chr12:40762996 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1182-5G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002065834] |
Chr12:40252905 [GRCh38]
Chr12:40646707 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6576+44T>C |
single nucleotide variant |
not provided [RCV001540836] |
Chr12:40351777 [GRCh38]
Chr12:40745579 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.838+177T>C |
single nucleotide variant |
not provided [RCV001560674] |
Chr12:40243858 [GRCh38]
Chr12:40637660 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7181+125A>G |
single nucleotide variant |
not provided [RCV001561582] |
Chr12:40363679 [GRCh38]
Chr12:40757481 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1942-114T>C |
single nucleotide variant |
not provided [RCV001574206] |
Chr12:40277774 [GRCh38]
Chr12:40671576 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5171-95G>T |
single nucleotide variant |
not provided [RCV001592750] |
Chr12:40321940 [GRCh38]
Chr12:40715742 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3348-208_3348-182del |
microsatellite |
not provided [RCV001659317] |
Chr12:40298861..40298887 [GRCh38]
Chr12:40692663..40692689 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5171-247C>T |
single nucleotide variant |
not provided [RCV001595614] |
Chr12:40321788 [GRCh38]
Chr12:40715590 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.215T>C (p.Met72Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001109927] |
Chr12:40225618 [GRCh38]
Chr12:40619420 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1656+6T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110023] |
Chr12:40263907 [GRCh38]
Chr12:40657709 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2282T>C (p.Leu761Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110024]|Inborn genetic diseases [RCV002445386] |
Chr12:40283915 [GRCh38]
Chr12:40677717 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4165G>A (p.Val1389Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110111]|not provided [RCV003222226] |
Chr12:40308672 [GRCh38]
Chr12:40702474 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2443C>A (p.Pro815Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110803] |
Chr12:40284076 [GRCh38]
Chr12:40677878 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2579G>A (p.Ser860Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110804] |
Chr12:40287429 [GRCh38]
Chr12:40681231 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2758G>A (p.Ala920Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001110805]|not provided [RCV003311945] |
Chr12:40293613 [GRCh38]
Chr12:40687415 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.5656+35G>A |
single nucleotide variant |
not provided [RCV001669127] |
Chr12:40323341 [GRCh38]
Chr12:40717143 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5509+20A>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002072312]|not provided [RCV001589631] |
Chr12:40322530 [GRCh38]
Chr12:40716332 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.6382-160T>C |
single nucleotide variant |
not provided [RCV001671402] |
Chr12:40351379 [GRCh38]
Chr12:40745181 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4190-62A>T |
single nucleotide variant |
not provided [RCV001611128] |
Chr12:40309044 [GRCh38]
Chr12:40702846 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2500+142del |
deletion |
not provided [RCV001610180] |
Chr12:40284262 [GRCh38]
Chr12:40678064 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5317+59A>C |
single nucleotide variant |
not provided [RCV001536739] |
Chr12:40322240 [GRCh38]
Chr12:40716042 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6054C>T (p.Tyr2018=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002073105]|Inborn genetic diseases [RCV002359212]|not specified [RCV001663728] |
Chr12:40340399 [GRCh38]
Chr12:40734201 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.3591-89T>A |
single nucleotide variant |
not provided [RCV001611817] |
Chr12:40303859 [GRCh38]
Chr12:40697661 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.7181+177A>G |
single nucleotide variant |
not provided [RCV001715086] |
Chr12:40363731 [GRCh38]
Chr12:40757533 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.347+193A>T |
single nucleotide variant |
not provided [RCV001587736] |
Chr12:40232576 [GRCh38]
Chr12:40626378 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3347+248C>T |
single nucleotide variant |
not provided [RCV001686807] |
Chr12:40298741 [GRCh38]
Chr12:40692543 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.149G>A (p.Arg50His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001520526]|not specified [RCV001528286] |
Chr12:40225280 [GRCh38]
Chr12:40619082 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4537-256C>A |
single nucleotide variant |
not provided [RCV001732323] |
Chr12:40313716 [GRCh38]
Chr12:40707518 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4128G>A (p.Trp1376Ter) |
single nucleotide variant |
not provided [RCV001726874] |
Chr12:40308635 [GRCh38]
Chr12:40702437 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7328G>A (p.Arg2443Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001882895]|not provided [RCV001756807] |
Chr12:40364988 [GRCh38]
Chr12:40758790 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.491T>C (p.Phe164Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001814640]|Inborn genetic diseases [RCV002343872] |
Chr12:40238023 [GRCh38]
Chr12:40631825 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.269_280del (p.Glu90_Pro93del) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV002044955] |
Chr12:40232303..40232314 [GRCh38]
Chr12:40626105..40626116 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1735A>G (p.Met579Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001987545] |
Chr12:40274661 [GRCh38]
Chr12:40668463 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1379_1388del (p.Glu460fs) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV001863390] |
Chr12:40257329..40257338 [GRCh38]
Chr12:40651131..40651140 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1825C>G (p.Leu609Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001889594] |
Chr12:40274877 [GRCh38]
Chr12:40668679 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2159A>G (p.Asn720Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001907133] |
Chr12:40278179 [GRCh38]
Chr12:40671981 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1477C>T (p.Arg493Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001981048] |
Chr12:40259538 [GRCh38]
Chr12:40653340 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.570A>T (p.Arg190Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002019923] |
Chr12:40238102 [GRCh38]
Chr12:40631904 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.851A>G (p.Asn284Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001998713]|Inborn genetic diseases [RCV002442993] |
Chr12:40249838 [GRCh38]
Chr12:40643640 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7226C>G (p.Ser2409Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001982130]|Inborn genetic diseases [RCV003167367] |
Chr12:40364886 [GRCh38]
Chr12:40758688 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6220G>A (p.Val2074Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002049761]|LRRK2-related condition [RCV003968588] |
Chr12:40346863 [GRCh38]
Chr12:40740665 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2050A>G (p.Met684Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001952211]|Inborn genetic diseases [RCV002423050] |
Chr12:40277996 [GRCh38]
Chr12:40671798 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3199C>A (p.Arg1067=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001901799] |
Chr12:40298345 [GRCh38]
Chr12:40692147 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5764G>A (p.Val1922Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001881616] |
Chr12:40334973 [GRCh38]
Chr12:40728775 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.137C>T (p.Thr46Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV001903389]|Inborn genetic diseases [RCV002386686] |
Chr12:40225268 [GRCh38]
Chr12:40619070 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.237+20T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002165048] |
Chr12:40225660 [GRCh38]
Chr12:40619462 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5163A>C (p.Ser1721=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002112204] |
Chr12:40321181 [GRCh38]
Chr12:40714983 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2689+19_2689+20dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV002145428] |
Chr12:40287550..40287551 [GRCh38]
Chr12:40681352..40681353 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.4101C>T (p.Ala1367=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002073776] |
Chr12:40308608 [GRCh38]
Chr12:40702410 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4714G>A (p.Ala1572Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002337409]|not provided [RCV002224601] |
Chr12:40314149 [GRCh38]
Chr12:40707951 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4447C>A (p.Arg1483=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002145486]|Inborn genetic diseases [RCV002331763] |
Chr12:40310560 [GRCh38]
Chr12:40704362 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2878+14T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002188435] |
Chr12:40294928 [GRCh38]
Chr12:40688730 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4473C>T (p.Thr1491=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002111514]|Inborn genetic diseases [RCV002331735] |
Chr12:40310586 [GRCh38]
Chr12:40704388 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3028T>C (p.Leu1010=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002074953]|Inborn genetic diseases [RCV002434532] |
Chr12:40295576 [GRCh38]
Chr12:40689378 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2229T>G (p.Ser743=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002167841]|Inborn genetic diseases [RCV002427554] |
Chr12:40278249 [GRCh38]
Chr12:40672051 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3435A>G (p.Ser1145=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002086200]|Inborn genetic diseases [RCV002454496] |
Chr12:40299196 [GRCh38]
Chr12:40692998 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2880G>A (p.Arg960=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002212668] |
Chr12:40295428 [GRCh38]
Chr12:40689230 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4845G>A (p.Val1615=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002094987]|Inborn genetic diseases [RCV002337259] |
Chr12:40320005 [GRCh38]
Chr12:40713807 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5454T>C (p.Asp1818=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002092994]|Inborn genetic diseases [RCV002346406] |
Chr12:40322455 [GRCh38]
Chr12:40716257 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4077A>G (p.Lys1359=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002127608]|Inborn genetic diseases [RCV002325637] |
Chr12:40308584 [GRCh38]
Chr12:40702386 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3497-8dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV002208053] |
Chr12:40302773..40302774 [GRCh38]
Chr12:40696575..40696576 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3867G>A (p.Gly1289=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002097357]|Inborn genetic diseases [RCV002361494] |
Chr12:40305874 [GRCh38]
Chr12:40699676 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4401T>C (p.Ser1467=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002216244]|Inborn genetic diseases [RCV002331697] |
Chr12:40310514 [GRCh38]
Chr12:40704316 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2809-18T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002097074] |
Chr12:40294827 [GRCh38]
Chr12:40688629 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.45T>C (p.Thr15=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002108663]|Inborn genetic diseases [RCV002337329] |
Chr12:40225176 [GRCh38]
Chr12:40618978 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2501-13C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002085738] |
Chr12:40287338 [GRCh38]
Chr12:40681140 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5166G>A (p.Gly1722=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002094594]|Inborn genetic diseases [RCV002337327] |
Chr12:40321184 [GRCh38]
Chr12:40714986 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2191T>C (p.Leu731=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002196608]|Inborn genetic diseases [RCV002416527] |
Chr12:40278211 [GRCh38]
Chr12:40672013 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5949-2490G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002076118] |
Chr12:40337804 [GRCh38]
Chr12:40731606 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2699G>C (p.Gly900Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003101230]|not provided [RCV002211216] |
Chr12:40293554 [GRCh38]
Chr12:40687356 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5385G>A (p.Leu1795=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002151037]|Inborn genetic diseases [RCV002346515] |
Chr12:40322386 [GRCh38]
Chr12:40716188 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.2689+12A>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002205386] |
Chr12:40287551 [GRCh38]
Chr12:40681353 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2689+12A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002196628] |
Chr12:40287551 [GRCh38]
Chr12:40681353 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6702G>A (p.Lys2234=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002170592]|Inborn genetic diseases [RCV003303712] |
Chr12:40354424 [GRCh38]
Chr12:40748226 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7462+15G>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002132638] |
Chr12:40367092 [GRCh38]
Chr12:40760894 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.5948+8G>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002078004]|not provided [RCV003395367] |
Chr12:40335165 [GRCh38]
Chr12:40728967 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5178A>G (p.Ala1726=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002115578]|Inborn genetic diseases [RCV002337288]|LRRK2-related condition [RCV003913689] |
Chr12:40322042 [GRCh38]
Chr12:40715844 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6109+19C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002131791] |
Chr12:40340473 [GRCh38]
Chr12:40734275 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3348-20A>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002219994] |
Chr12:40299089 [GRCh38]
Chr12:40692891 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2809-19A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002139253] |
Chr12:40294826 [GRCh38]
Chr12:40688628 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1802-11del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV002118087] |
Chr12:40274835 [GRCh38]
Chr12:40668637 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.66G>A (p.Arg22=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002118317]|Inborn genetic diseases [RCV002363655] |
Chr12:40225197 [GRCh38]
Chr12:40618999 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2879-9del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV002136191] |
Chr12:40295414 [GRCh38]
Chr12:40689216 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.347+11T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002098767] |
Chr12:40232394 [GRCh38]
Chr12:40626196 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2382G>T (p.Leu794=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002178454]|Inborn genetic diseases [RCV002454558] |
Chr12:40284015 [GRCh38]
Chr12:40677817 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5170+14_5170+28del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV002164765] |
Chr12:40321200..40321214 [GRCh38]
Chr12:40715002..40715016 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2874A>T (p.Ser958=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002199465] |
Chr12:40294910 [GRCh38]
Chr12:40688712 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.151+19A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002101655] |
Chr12:40225301 [GRCh38]
Chr12:40619103 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.319A>G (p.Asn107Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002204086] |
Chr12:40232355 [GRCh38]
Chr12:40626157 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4828-11G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002141742] |
Chr12:40319977 [GRCh38]
Chr12:40713779 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5691C>T (p.Ala1897=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002135677]|Inborn genetic diseases [RCV003308017] |
Chr12:40328394 [GRCh38]
Chr12:40722196 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2689+17A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002101977] |
Chr12:40287556 [GRCh38]
Chr12:40681358 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1092G>A (p.Lys364=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002103785]|Inborn genetic diseases [RCV002454443] |
Chr12:40251365 [GRCh38]
Chr12:40645167 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.707-14C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002101381] |
Chr12:40243536 [GRCh38]
Chr12:40637338 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1891C>T (p.Leu631=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002179347]|Inborn genetic diseases [RCV002407339] |
Chr12:40274943 [GRCh38]
Chr12:40668745 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4831T>C (p.Leu1611=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002123283] |
Chr12:40319991 [GRCh38]
Chr12:40713793 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.834A>G (p.Thr278=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002117793]|Inborn genetic diseases [RCV002434507]|LRRK2-related condition [RCV003913723] |
Chr12:40243677 [GRCh38]
Chr12:40637479 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.4189+14T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002102300] |
Chr12:40308710 [GRCh38]
Chr12:40702512 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5015+13T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002122238] |
Chr12:40320188 [GRCh38]
Chr12:40713990 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.5217C>T (p.Tyr1739=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002181924]|Inborn genetic diseases [RCV002346544] |
Chr12:40322081 [GRCh38]
Chr12:40715883 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6012A>G (p.Thr2004=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002101250]|Inborn genetic diseases [RCV002352849] |
Chr12:40340357 [GRCh38]
Chr12:40734159 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2690-14C>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002101674] |
Chr12:40293531 [GRCh38]
Chr12:40687333 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2721A>G (p.Lys907=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278449] |
Chr12:40293576 [GRCh38]
Chr12:40687378 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2836C>T (p.Leu946=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435177] |
Chr12:40294872 [GRCh38]
Chr12:40688674 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3405C>T (p.Asn1135=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452123] |
Chr12:40299166 [GRCh38]
Chr12:40692968 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3407T>G (p.Leu1136Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002452135] |
Chr12:40299168 [GRCh38]
Chr12:40692970 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7408A>T (p.Met2470Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002384903] |
Chr12:40367023 [GRCh38]
Chr12:40760825 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7412T>C (p.Leu2471Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002384936] |
Chr12:40367027 [GRCh38]
Chr12:40760829 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7416A>T (p.Val2472=) |
single nucleotide variant |
Inborn genetic diseases [RCV002384945] |
Chr12:40367031 [GRCh38]
Chr12:40760833 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2994T>C (p.Asp998=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435531] |
Chr12:40295542 [GRCh38]
Chr12:40689344 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3758C>G (p.Ser1253Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002349335] |
Chr12:40304115 [GRCh38]
Chr12:40697917 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6255A>G (p.Glu2085=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366690] |
Chr12:40346898 [GRCh38]
Chr12:40740700 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3762C>G (p.His1254Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002349384] |
Chr12:40304119 [GRCh38]
Chr12:40697921 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.29A>C (p.Glu10Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002435599] |
Chr12:40225160 [GRCh38]
Chr12:40618962 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7432A>C (p.Lys2478Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002385032] |
Chr12:40367047 [GRCh38]
Chr12:40760849 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3394A>G (p.Lys1132Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002451944] |
Chr12:40299155 [GRCh38]
Chr12:40692957 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3395A>G (p.Lys1132Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002451949] |
Chr12:40299156 [GRCh38]
Chr12:40692958 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6210A>C (p.Gly2070=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366474] |
Chr12:40346853 [GRCh38]
Chr12:40740655 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6198T>G (p.Ile2066Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002366424] |
Chr12:40346841 [GRCh38]
Chr12:40740643 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.285A>C (p.Thr95=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435444] |
Chr12:40232321 [GRCh38]
Chr12:40626123 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2996C>T (p.Ala999Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002435546] |
Chr12:40295544 [GRCh38]
Chr12:40689346 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3642C>T (p.Pro1214=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452440] |
Chr12:40303999 [GRCh38]
Chr12:40697801 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7430G>C (p.Arg2477Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002385024] |
Chr12:40367045 [GRCh38]
Chr12:40760847 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7438A>G (p.Thr2480Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002385050] |
Chr12:40367053 [GRCh38]
Chr12:40760855 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1376C>G (p.Ala459Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002383822] |
Chr12:40257335 [GRCh38]
Chr12:40651137 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3390A>G (p.Glu1130=) |
single nucleotide variant |
Inborn genetic diseases [RCV002451912] |
Chr12:40299151 [GRCh38]
Chr12:40692953 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.33G>A (p.Glu11=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452048] |
Chr12:40225164 [GRCh38]
Chr12:40618966 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5317+68dup |
duplication |
not provided [RCV002285621] |
Chr12:40322235..40322236 [GRCh38]
Chr12:40716037..40716038 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7454A>G (p.Lys2485Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002385127] |
Chr12:40367069 [GRCh38]
Chr12:40760871 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3870A>G (p.Lys1290=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003102464]|Inborn genetic diseases [RCV002366262] |
Chr12:40305877 [GRCh38]
Chr12:40699679 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3700A>G (p.Ile1234Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002348928] |
Chr12:40304057 [GRCh38]
Chr12:40697859 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5427G>A (p.Lys1809=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349524] |
Chr12:40322428 [GRCh38]
Chr12:40716230 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3669G>A (p.Arg1223=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452621] |
Chr12:40304026 [GRCh38]
Chr12:40697828 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2837T>C (p.Leu946Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002435191] |
Chr12:40294873 [GRCh38]
Chr12:40688675 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3887A>T (p.Asp1296Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002366336] |
Chr12:40305894 [GRCh38]
Chr12:40699696 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3716A>C (p.Glu1239Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002349038] |
Chr12:40304073 [GRCh38]
Chr12:40697875 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2841G>A (p.Lys947=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435259] |
Chr12:40294877 [GRCh38]
Chr12:40688679 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2841G>T (p.Lys947Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002435261] |
Chr12:40294877 [GRCh38]
Chr12:40688679 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6205A>G (p.Thr2069Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002366459] |
Chr12:40346848 [GRCh38]
Chr12:40740650 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2849G>T (p.Arg950Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002435333] |
Chr12:40294885 [GRCh38]
Chr12:40688687 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6215G>C (p.Arg2072Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002366477] |
Chr12:40346858 [GRCh38]
Chr12:40740660 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6218T>G (p.Ile2073Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002366481] |
Chr12:40346861 [GRCh38]
Chr12:40740663 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.284C>T (p.Thr95Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002435346] |
Chr12:40232320 [GRCh38]
Chr12:40626122 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3614G>A (p.Ser1205Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002452247] |
Chr12:40303971 [GRCh38]
Chr12:40697773 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3732G>T (p.Trp1244Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002349188] |
Chr12:40304089 [GRCh38]
Chr12:40697891 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.361A>G (p.Met121Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002452280] |
Chr12:40235639 [GRCh38]
Chr12:40629441 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3620A>T (p.Asp1207Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002452298] |
Chr12:40303977 [GRCh38]
Chr12:40697779 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6228T>C (p.Gly2076=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366550] |
Chr12:40346871 [GRCh38]
Chr12:40740673 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2856A>G (p.Ile952Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002435417] |
Chr12:40294892 [GRCh38]
Chr12:40688694 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3626A>G (p.Gln1209Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002452332] |
Chr12:40303983 [GRCh38]
Chr12:40697785 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6233A>C (p.Lys2078Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002366582] |
Chr12:40346876 [GRCh38]
Chr12:40740678 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3628T>C (p.Tyr1210His) |
single nucleotide variant |
Inborn genetic diseases [RCV002452338] |
Chr12:40303985 [GRCh38]
Chr12:40697787 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6248T>A (p.Phe2083Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002366641] |
Chr12:40346891 [GRCh38]
Chr12:40740693 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6248T>G (p.Phe2083Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002366643] |
Chr12:40346891 [GRCh38]
Chr12:40740693 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3636A>G (p.Pro1212=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452390] |
Chr12:40303993 [GRCh38]
Chr12:40697795 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3378G>T (p.Leu1126Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002451795] |
Chr12:40299139 [GRCh38]
Chr12:40692941 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2508A>G (p.Ala836=) |
single nucleotide variant |
Inborn genetic diseases [RCV002434910] |
Chr12:40287358 [GRCh38]
Chr12:40681160 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6254A>G (p.Glu2085Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002366686] |
Chr12:40346897 [GRCh38]
Chr12:40740699 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.741C>T (p.Val247=) |
single nucleotide variant |
Inborn genetic diseases [RCV002384967] |
Chr12:40243584 [GRCh38]
Chr12:40637386 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3391C>T (p.Leu1131=) |
single nucleotide variant |
Inborn genetic diseases [RCV002451923] |
Chr12:40299152 [GRCh38]
Chr12:40692954 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3396G>T (p.Lys1132Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002451955] |
Chr12:40299157 [GRCh38]
Chr12:40692959 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.385G>A (p.Val129Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002366229] |
Chr12:40235663 [GRCh38]
Chr12:40629465 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7422C>A (p.Gly2474=) |
single nucleotide variant |
Inborn genetic diseases [RCV002384999] |
Chr12:40367037 [GRCh38]
Chr12:40760839 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5416A>G (p.Thr1806Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002349443] |
Chr12:40322417 [GRCh38]
Chr12:40716219 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3660G>A (p.Leu1220=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452567] |
Chr12:40304017 [GRCh38]
Chr12:40697819 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6646G>T (p.Val2216Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002366822] |
Chr12:40354368 [GRCh38]
Chr12:40748170 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7101G>A (p.Lys2367=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367376] |
Chr12:40363474 [GRCh38]
Chr12:40757276 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1108G>T (p.Ala370Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002453100] |
Chr12:40251471 [GRCh38]
Chr12:40645273 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2656G>A (p.Val886Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002453101] |
Chr12:40287506 [GRCh38]
Chr12:40681308 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7107T>C (p.Asn2369=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367385] |
Chr12:40363480 [GRCh38]
Chr12:40757282 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2040T>C (p.Ser680=) |
single nucleotide variant |
Inborn genetic diseases [RCV002419932] |
Chr12:40277986 [GRCh38]
Chr12:40671788 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.265A>G (p.Ile89Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002453120] |
Chr12:40232301 [GRCh38]
Chr12:40626103 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6316A>G (p.Met2106Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002368846] |
Chr12:40348444 [GRCh38]
Chr12:40742246 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6331A>G (p.Ile2111Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002368896] |
Chr12:40348459 [GRCh38]
Chr12:40742261 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5085T>C (p.Tyr1695=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351468] |
Chr12:40321103 [GRCh38]
Chr12:40714905 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.812G>T (p.Cys271Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002421332] |
Chr12:40243655 [GRCh38]
Chr12:40637457 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2871T>A (p.Asp957Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002437685] |
Chr12:40294907 [GRCh38]
Chr12:40688709 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6339G>C (p.Gln2113His) |
single nucleotide variant |
Inborn genetic diseases [RCV002368913] |
Chr12:40348467 [GRCh38]
Chr12:40742269 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1954A>G (p.Ile652Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002421585] |
Chr12:40277900 [GRCh38]
Chr12:40671702 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.988G>A (p.Glu330Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002387407] |
Chr12:40251261 [GRCh38]
Chr12:40645063 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6732T>C (p.Ser2244=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369175] |
Chr12:40354454 [GRCh38]
Chr12:40748256 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7114G>C (p.Val2372Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002367420] |
Chr12:40363487 [GRCh38]
Chr12:40757289 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2685T>G (p.Ser895Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002453154] |
Chr12:40287535 [GRCh38]
Chr12:40681337 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3325C>A (p.Leu1109Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002454764] |
Chr12:40298471 [GRCh38]
Chr12:40692273 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.633G>A (p.Ala211=) |
single nucleotide variant |
Inborn genetic diseases [RCV002368928] |
Chr12:40240544 [GRCh38]
Chr12:40634346 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3362G>C (p.Gly1121Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002454768] |
Chr12:40299123 [GRCh38]
Chr12:40692925 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.633G>C (p.Ala211=) |
single nucleotide variant |
Inborn genetic diseases [RCV002368930] |
Chr12:40240544 [GRCh38]
Chr12:40634346 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5535A>G (p.Gln1845=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351851] |
Chr12:40323185 [GRCh38]
Chr12:40716987 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3704T>G (p.Leu1235Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002348959] |
Chr12:40304061 [GRCh38]
Chr12:40697863 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3708C>T (p.Asp1236=) |
single nucleotide variant |
Inborn genetic diseases [RCV002348978] |
Chr12:40304065 [GRCh38]
Chr12:40697867 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.712A>G (p.Asn238Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002367452] |
Chr12:40243555 [GRCh38]
Chr12:40637357 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2691A>C (p.Gly897=) |
single nucleotide variant |
Inborn genetic diseases [RCV002453191] |
Chr12:40293546 [GRCh38]
Chr12:40687348 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2691A>G (p.Gly897=) |
single nucleotide variant |
Inborn genetic diseases [RCV002453193] |
Chr12:40293546 [GRCh38]
Chr12:40687348 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7131T>A (p.Asp2377Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002367468] |
Chr12:40363504 [GRCh38]
Chr12:40757306 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7144A>G (p.Lys2382Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002367504] |
Chr12:40363517 [GRCh38]
Chr12:40757319 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7147C>A (p.Leu2383Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002367510] |
Chr12:40363520 [GRCh38]
Chr12:40757322 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2049C>A (p.Ile683=) |
single nucleotide variant |
Inborn genetic diseases [RCV002420041] |
Chr12:40277995 [GRCh38]
Chr12:40671797 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1327C>T (p.Leu443=) |
single nucleotide variant |
Inborn genetic diseases [RCV002385821] |
Chr12:40257286 [GRCh38]
Chr12:40651088 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7158A>G (p.Leu2386=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367564] |
Chr12:40363531 [GRCh38]
Chr12:40757333 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.975A>T (p.Leu325Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002387110] |
Chr12:40251248 [GRCh38]
Chr12:40645050 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5546C>T (p.Thr1849Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002351908] |
Chr12:40323196 [GRCh38]
Chr12:40716998 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1336T>G (p.Leu446Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002387603] |
Chr12:40257295 [GRCh38]
Chr12:40651097 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3033G>A (p.Glu1011=) |
single nucleotide variant |
Inborn genetic diseases [RCV002438131] |
Chr12:40295581 [GRCh38]
Chr12:40689383 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6781A>C (p.Asn2261His) |
single nucleotide variant |
Inborn genetic diseases [RCV002369366] |
Chr12:40356125 [GRCh38]
Chr12:40749927 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3888T>C (p.Asp1296=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366340] |
Chr12:40305895 [GRCh38]
Chr12:40699697 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.797T>C (p.Ile266Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002419046] |
Chr12:40243640 [GRCh38]
Chr12:40637442 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6278C>G (p.Pro2093Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002368670] |
Chr12:40346921 [GRCh38]
Chr12:40740723 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3035A>T (p.His1012Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002438147] |
Chr12:40295583 [GRCh38]
Chr12:40689385 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6231G>A (p.Leu2077=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366576] |
Chr12:40346874 [GRCh38]
Chr12:40740676 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3630C>T (p.Tyr1210=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452363] |
Chr12:40303987 [GRCh38]
Chr12:40697789 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6242A>T (p.Asn2081Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638849]|Inborn genetic diseases [RCV002366625]|not specified [RCV003317597] |
Chr12:40346885 [GRCh38]
Chr12:40740687 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7409T>C (p.Met2470Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002384907] |
Chr12:40367024 [GRCh38]
Chr12:40760826 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5450A>G (p.Asn1817Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002349661] |
Chr12:40322451 [GRCh38]
Chr12:40716253 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2020G>C (p.Val674Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002419587] |
Chr12:40277966 [GRCh38]
Chr12:40671768 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6680T>C (p.Ile2227Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002367019] |
Chr12:40354402 [GRCh38]
Chr12:40748204 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7156C>T (p.Leu2386=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367560] |
Chr12:40363529 [GRCh38]
Chr12:40757331 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4944G>A (p.Gln1648=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351317] |
Chr12:40320104 [GRCh38]
Chr12:40713906 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2739A>G (p.Val913=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437562] |
Chr12:40293594 [GRCh38]
Chr12:40687396 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3363G>A (p.Gly1121=) |
single nucleotide variant |
Inborn genetic diseases [RCV002454776] |
Chr12:40299124 [GRCh38]
Chr12:40692926 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1257G>A (p.Ala419=) |
single nucleotide variant |
Inborn genetic diseases [RCV002421368] |
Chr12:40252985 [GRCh38]
Chr12:40646787 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1956C>T (p.Ile652=) |
single nucleotide variant |
Inborn genetic diseases [RCV002421621] |
Chr12:40277902 [GRCh38]
Chr12:40671704 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6750C>G (p.Cys2250Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002369224] |
Chr12:40354472 [GRCh38]
Chr12:40748274 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.552A>G (p.Leu184=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351804] |
Chr12:40238084 [GRCh38]
Chr12:40631886 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2991T>C (p.Ile997=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435504] |
Chr12:40295539 [GRCh38]
Chr12:40689341 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6250G>A (p.Asp2084Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002366680] |
Chr12:40346893 [GRCh38]
Chr12:40740695 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7418T>G (p.Leu2473Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002384956] |
Chr12:40367033 [GRCh38]
Chr12:40760835 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6263T>G (p.Ile2088Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002366731] |
Chr12:40346906 [GRCh38]
Chr12:40740708 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7430G>T (p.Arg2477Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002385025] |
Chr12:40367045 [GRCh38]
Chr12:40760847 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4739-122T>A |
single nucleotide variant |
Leprosy, susceptibility to, 1 [RCV002291814] |
Chr12:40315090 [GRCh38]
Chr12:40708892 [GRCh37]
Chr12:12q12 |
uncertain risk allele |
| NM_198578.4(LRRK2):c.5457T>G (p.Gly1819=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349693] |
Chr12:40322458 [GRCh38]
Chr12:40716260 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2571C>T (p.Ala857=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638893]|Inborn genetic diseases [RCV002452770] |
Chr12:40287421 [GRCh38]
Chr12:40681223 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6687C>T (p.Thr2229=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367041] |
Chr12:40354409 [GRCh38]
Chr12:40748211 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3022G>A (p.Val1008Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002435907] |
Chr12:40295570 [GRCh38]
Chr12:40689372 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2220G>A (p.Glu740=) |
single nucleotide variant |
Inborn genetic diseases [RCV002420123] |
Chr12:40278240 [GRCh38]
Chr12:40672042 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2875C>G (p.Leu959Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003102813]|Inborn genetic diseases [RCV002437717] |
Chr12:40294911 [GRCh38]
Chr12:40688713 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2875C>T (p.Leu959Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002437718] |
Chr12:40294911 [GRCh38]
Chr12:40688713 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5117C>T (p.Ser1706Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002351523] |
Chr12:40321135 [GRCh38]
Chr12:40714937 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5118A>G (p.Ser1706=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351524] |
Chr12:40321136 [GRCh38]
Chr12:40714938 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5542C>T (p.Leu1848Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002351897] |
Chr12:40323192 [GRCh38]
Chr12:40716994 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2900A>T (p.His967Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003102857]|Inborn genetic diseases [RCV002438073] |
Chr12:40295448 [GRCh38]
Chr12:40689250 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3007A>C (p.Lys1003Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002435722] |
Chr12:40295555 [GRCh38]
Chr12:40689357 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.366A>T (p.Leu122=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452624] |
Chr12:40235644 [GRCh38]
Chr12:40629446 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6691G>A (p.Asp2231Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002367079] |
Chr12:40354413 [GRCh38]
Chr12:40748215 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6694G>A (p.Gly2232Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003120949]|Inborn genetic diseases [RCV002367085] |
Chr12:40354416 [GRCh38]
Chr12:40748218 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2579G>C (p.Ser860Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002452821] |
Chr12:40287429 [GRCh38]
Chr12:40681231 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2242G>T (p.Val748Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002420188] |
Chr12:40283875 [GRCh38]
Chr12:40677677 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3672A>G (p.Glu1224=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452665] |
Chr12:40304029 [GRCh38]
Chr12:40697831 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2877C>T (p.Leu959=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437737] |
Chr12:40294913 [GRCh38]
Chr12:40688715 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3367T>A (p.Cys1123Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002454809] |
Chr12:40299128 [GRCh38]
Chr12:40692930 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1257G>T (p.Ala419=) |
single nucleotide variant |
Inborn genetic diseases [RCV002421402] |
Chr12:40252985 [GRCh38]
Chr12:40646787 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5521G>A (p.Val1841Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002351776] |
Chr12:40323171 [GRCh38]
Chr12:40716973 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1955T>C (p.Ile652Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002421608] |
Chr12:40277901 [GRCh38]
Chr12:40671703 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5535A>C (p.Gln1845His) |
single nucleotide variant |
Inborn genetic diseases [RCV002351850] |
Chr12:40323185 [GRCh38]
Chr12:40716987 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5541G>A (p.Arg1847=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351892] |
Chr12:40323191 [GRCh38]
Chr12:40716993 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.131T>C (p.Val44Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002385663] |
Chr12:40225262 [GRCh38]
Chr12:40619064 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7113T>G (p.Pro2371=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367419] |
Chr12:40363486 [GRCh38]
Chr12:40757288 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2686G>A (p.Glu896Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002453159] |
Chr12:40287536 [GRCh38]
Chr12:40681338 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3027T>G (p.His1009Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002435950] |
Chr12:40295575 [GRCh38]
Chr12:40689377 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2601T>C (p.Asp867=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437139] |
Chr12:40287451 [GRCh38]
Chr12:40681253 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3762C>T (p.His1254=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351023] |
Chr12:40304119 [GRCh38]
Chr12:40697921 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3763A>G (p.Asn1255Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002351031] |
Chr12:40304120 [GRCh38]
Chr12:40697922 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2023A>G (p.Ile675Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002419630] |
Chr12:40277969 [GRCh38]
Chr12:40671771 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.668T>G (p.Leu223Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002367072] |
Chr12:40240579 [GRCh38]
Chr12:40634381 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6693T>C (p.Asp2231=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367083] |
Chr12:40354415 [GRCh38]
Chr12:40748217 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6353A>G (p.Asn2118Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002368990] |
Chr12:40348481 [GRCh38]
Chr12:40742283 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5499A>C (p.Lys1833Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002351578] |
Chr12:40322500 [GRCh38]
Chr12:40716302 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2902A>G (p.Met968Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002438093] |
Chr12:40295450 [GRCh38]
Chr12:40689252 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5553A>G (p.Pro1851=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351936] |
Chr12:40323203 [GRCh38]
Chr12:40717005 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5479C>T (p.Leu1827Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002349828] |
Chr12:40322480 [GRCh38]
Chr12:40716282 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.66G>C (p.Arg22Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002367151] |
Chr12:40225197 [GRCh38]
Chr12:40618999 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2615T>C (p.Phe872Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002452904] |
Chr12:40287465 [GRCh38]
Chr12:40681267 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6648G>A (p.Val2216=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366827] |
Chr12:40354370 [GRCh38]
Chr12:40748172 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7450C>A (p.Gln2484Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002385120]|not provided [RCV003491099] |
Chr12:40367065 [GRCh38]
Chr12:40760867 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3663C>T (p.Asn1221=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452580] |
Chr12:40304020 [GRCh38]
Chr12:40697822 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2673T>C (p.Asp891=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437300] |
Chr12:40287523 [GRCh38]
Chr12:40681325 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3776A>C (p.Glu1259Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002351104] |
Chr12:40304133 [GRCh38]
Chr12:40697935 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2649G>A (p.Met883Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002453033] |
Chr12:40287499 [GRCh38]
Chr12:40681301 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.111A>G (p.Gln37=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437788] |
Chr12:40225242 [GRCh38]
Chr12:40619044 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6774A>G (p.Lys2258=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369333] |
Chr12:40356118 [GRCh38]
Chr12:40749920 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5559T>A (p.Ser1853=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351958] |
Chr12:40323209 [GRCh38]
Chr12:40717011 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3673C>T (p.Leu1225Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002452673] |
Chr12:40304030 [GRCh38]
Chr12:40697832 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3021T>C (p.Ser1007=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435899] |
Chr12:40295569 [GRCh38]
Chr12:40689371 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2679G>A (p.Leu893=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437314] |
Chr12:40287529 [GRCh38]
Chr12:40681331 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3782C>T (p.Pro1261Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526134]|Inborn genetic diseases [RCV002351152] |
Chr12:40305789 [GRCh38]
Chr12:40699591 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2693G>A (p.Ser898Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638895]|Inborn genetic diseases [RCV002437362] |
Chr12:40293548 [GRCh38]
Chr12:40687350 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3785C>T (p.Pro1262Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002351167] |
Chr12:40305792 [GRCh38]
Chr12:40699594 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.549T>A (p.Ala183=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351611] |
Chr12:40238081 [GRCh38]
Chr12:40631883 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6360A>C (p.Gln2120His) |
single nucleotide variant |
Inborn genetic diseases [RCV002369036] |
Chr12:40348488 [GRCh38]
Chr12:40742290 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2865A>T (p.Ser955=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437615] |
Chr12:40294901 [GRCh38]
Chr12:40688703 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3324A>G (p.Lys1108=) |
single nucleotide variant |
Inborn genetic diseases [RCV002454762] |
Chr12:40298470 [GRCh38]
Chr12:40692272 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2578A>C (p.Ser860Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002452812] |
Chr12:40287428 [GRCh38]
Chr12:40681230 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1311A>G (p.Leu437=) |
single nucleotide variant |
Inborn genetic diseases [RCV002385451] |
Chr12:40257270 [GRCh38]
Chr12:40651072 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1026G>A (p.Gly342=) |
single nucleotide variant |
Inborn genetic diseases [RCV002385468] |
Chr12:40251299 [GRCh38]
Chr12:40645101 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2029C>T (p.His677Tyr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003101022]|Inborn genetic diseases [RCV002419737] |
Chr12:40277975 [GRCh38]
Chr12:40671777 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6702G>C (p.Lys2234Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002367175] |
Chr12:40354424 [GRCh38]
Chr12:40748226 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2028C>T (p.Phe676=) |
single nucleotide variant |
Inborn genetic diseases [RCV002419726] |
Chr12:40277974 [GRCh38]
Chr12:40671776 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6703A>G (p.Arg2235Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002367177] |
Chr12:40354425 [GRCh38]
Chr12:40748227 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6706C>A (p.His2236Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002367182] |
Chr12:40354428 [GRCh38]
Chr12:40748230 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.670C>T (p.His224Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002367198] |
Chr12:40240581 [GRCh38]
Chr12:40634383 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1312T>C (p.Ser438Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002385492] |
Chr12:40257271 [GRCh38]
Chr12:40651073 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1110A>G (p.Ala370=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437404] |
Chr12:40251473 [GRCh38]
Chr12:40645275 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2869G>A (p.Asp957Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002437649] |
Chr12:40294905 [GRCh38]
Chr12:40688707 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6326A>C (p.Lys2109Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002368879] |
Chr12:40348454 [GRCh38]
Chr12:40742256 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6369T>A (p.Pro2123=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369060] |
Chr12:40348497 [GRCh38]
Chr12:40742299 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2883A>C (p.Ser961=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437823] |
Chr12:40295431 [GRCh38]
Chr12:40689233 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2883A>G (p.Ser961=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437824] |
Chr12:40295431 [GRCh38]
Chr12:40689233 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5529A>G (p.Pro1843=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351796] |
Chr12:40323179 [GRCh38]
Chr12:40716981 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.675G>C (p.Val225=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369268] |
Chr12:40240586 [GRCh38]
Chr12:40634388 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5537C>T (p.Pro1846Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002351862] |
Chr12:40323187 [GRCh38]
Chr12:40716989 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.636A>C (p.Leu212Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002369062] |
Chr12:40240547 [GRCh38]
Chr12:40634349 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3565C>G (p.Pro1189Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002454949] |
Chr12:40302857 [GRCh38]
Chr12:40696659 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3676T>C (p.Leu1226=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452692] |
Chr12:40304033 [GRCh38]
Chr12:40697835 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5451T>C (p.Asn1817=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349670] |
Chr12:40322452 [GRCh38]
Chr12:40716254 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6714A>G (p.Leu2238=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367222] |
Chr12:40354436 [GRCh38]
Chr12:40748238 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2637T>C (p.Pro879=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452957] |
Chr12:40287487 [GRCh38]
Chr12:40681289 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2718G>A (p.Lys906=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437462] |
Chr12:40293573 [GRCh38]
Chr12:40687375 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.272T>G (p.Val91Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002437477] |
Chr12:40232308 [GRCh38]
Chr12:40626110 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4920A>G (p.Lys1640=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351266] |
Chr12:40320080 [GRCh38]
Chr12:40713882 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6270A>G (p.Gly2090=) |
single nucleotide variant |
Inborn genetic diseases [RCV002368659] |
Chr12:40346913 [GRCh38]
Chr12:40740715 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2731A>G (p.Ile911Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526212]|Inborn genetic diseases [RCV002437486] |
Chr12:40293586 [GRCh38]
Chr12:40687388 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6276A>G (p.Leu2092=) |
single nucleotide variant |
Inborn genetic diseases [RCV002368668] |
Chr12:40346919 [GRCh38]
Chr12:40740721 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.54G>A (p.Lys18=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351647] |
Chr12:40225185 [GRCh38]
Chr12:40618987 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3555T>A (p.Phe1185Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002454890] |
Chr12:40302847 [GRCh38]
Chr12:40696649 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2886A>G (p.Ser962=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437846] |
Chr12:40295434 [GRCh38]
Chr12:40689236 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6672C>T (p.Leu2224=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366972] |
Chr12:40354394 [GRCh38]
Chr12:40748196 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6681C>G (p.Ile2227Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002367021] |
Chr12:40354403 [GRCh38]
Chr12:40748205 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5748G>C (p.Leu1916=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349907] |
Chr12:40328451 [GRCh38]
Chr12:40722253 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.671A>G (p.His224Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002367238] |
Chr12:40240582 [GRCh38]
Chr12:40634384 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5749T>C (p.Leu1917=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003096863]|Inborn genetic diseases [RCV002349913] |
Chr12:40328452 [GRCh38]
Chr12:40722254 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6722T>C (p.Met2241Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002367248] |
Chr12:40354444 [GRCh38]
Chr12:40748246 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7089C>G (p.Leu2363=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367252] |
Chr12:40363462 [GRCh38]
Chr12:40757264 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7089C>T (p.Leu2363=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098468]|Inborn genetic diseases [RCV002367254]|LRRK2-related condition [RCV003961023] |
Chr12:40363462 [GRCh38]
Chr12:40757264 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2640C>T (p.Asp880=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452985] |
Chr12:40287490 [GRCh38]
Chr12:40681292 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2033A>C (p.Gln678Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002419810] |
Chr12:40277979 [GRCh38]
Chr12:40671781 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2734A>G (p.Ser912Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002437502] |
Chr12:40293589 [GRCh38]
Chr12:40687391 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4941A>T (p.Ser1647=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351314] |
Chr12:40320101 [GRCh38]
Chr12:40713903 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6285A>G (p.Pro2095=) |
single nucleotide variant |
Inborn genetic diseases [RCV002368703] |
Chr12:40348413 [GRCh38]
Chr12:40742215 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2735G>C (p.Ser912Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002437516] |
Chr12:40293590 [GRCh38]
Chr12:40687392 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1111T>C (p.Cys371Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002437529] |
Chr12:40251474 [GRCh38]
Chr12:40645276 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2839A>C (p.Lys947Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002435212] |
Chr12:40294875 [GRCh38]
Chr12:40688677 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2843G>T (p.Arg948Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002435277] |
Chr12:40294879 [GRCh38]
Chr12:40688681 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3900T>A (p.Asp1300Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002366415] |
Chr12:40305907 [GRCh38]
Chr12:40699709 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.66G>T (p.Arg22Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002367156] |
Chr12:40225197 [GRCh38]
Chr12:40618999 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5540G>C (p.Arg1847Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002351889] |
Chr12:40323190 [GRCh38]
Chr12:40716992 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5541G>T (p.Arg1847Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002351894] |
Chr12:40323191 [GRCh38]
Chr12:40716993 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1209C>G (p.Leu403=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349956] |
Chr12:40252937 [GRCh38]
Chr12:40646739 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4971G>C (p.Gln1657His) |
single nucleotide variant |
Inborn genetic diseases [RCV002351349] |
Chr12:40320131 [GRCh38]
Chr12:40713933 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6295T>A (p.Tyr2099Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002368749] |
Chr12:40348423 [GRCh38]
Chr12:40742225 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3735T>C (p.Ser1245=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349202] |
Chr12:40304092 [GRCh38]
Chr12:40697894 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5504A>G (p.Glu1835Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002351685] |
Chr12:40322505 [GRCh38]
Chr12:40716307 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5505G>A (p.Glu1835=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351696] |
Chr12:40322506 [GRCh38]
Chr12:40716308 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.500T>C (p.Met167Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002351381] |
Chr12:40238032 [GRCh38]
Chr12:40631834 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6304G>A (p.Ala2102Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002368804] |
Chr12:40348432 [GRCh38]
Chr12:40742234 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6246G>C (p.Glu2082Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002366634] |
Chr12:40346889 [GRCh38]
Chr12:40740691 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.624G>A (p.Leu208=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366668] |
Chr12:40240535 [GRCh38]
Chr12:40634337 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3753T>C (p.His1251=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349323] |
Chr12:40304110 [GRCh38]
Chr12:40697912 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2995G>T (p.Ala999Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002435542] |
Chr12:40295543 [GRCh38]
Chr12:40689345 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2996C>A (p.Ala999Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002435545] |
Chr12:40295544 [GRCh38]
Chr12:40689346 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7437T>C (p.Asn2479=) |
single nucleotide variant |
Inborn genetic diseases [RCV002385046] |
Chr12:40367052 [GRCh38]
Chr12:40760854 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.550T>C (p.Leu184=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351721] |
Chr12:40238082 [GRCh38]
Chr12:40631884 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5510G>A (p.Gly1837Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002351727] |
Chr12:40323160 [GRCh38]
Chr12:40716962 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2038T>A (p.Ser680Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002419881] |
Chr12:40277984 [GRCh38]
Chr12:40671786 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2651A>G (p.Asp884Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002453069] |
Chr12:40287501 [GRCh38]
Chr12:40681303 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6307C>T (p.Pro2103Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002368811] |
Chr12:40348435 [GRCh38]
Chr12:40742237 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5025C>T (p.Asp1675=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351402] |
Chr12:40321043 [GRCh38]
Chr12:40714845 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5034T>A (p.Pro1678=) |
single nucleotide variant |
Inborn genetic diseases [RCV002351410] |
Chr12:40321052 [GRCh38]
Chr12:40714854 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3000A>C (p.Leu1000=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435661] |
Chr12:40295548 [GRCh38]
Chr12:40689350 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6652G>T (p.Gly2218Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002366863] |
Chr12:40354374 [GRCh38]
Chr12:40748176 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6726T>G (p.Thr2242=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369146] |
Chr12:40354448 [GRCh38]
Chr12:40748250 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5512G>A (p.Asp1838Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002351737] |
Chr12:40323162 [GRCh38]
Chr12:40716964 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2408T>A (p.Ile803Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003300956] |
Chr12:40284041 [GRCh38]
Chr12:40677843 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2079C>A (p.Asn693Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003300957] |
Chr12:40278099 [GRCh38]
Chr12:40671901 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.951C>A (p.Ala317=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300958] |
Chr12:40249938 [GRCh38]
Chr12:40643740 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2054A>G (p.Glu685Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003300959] |
Chr12:40278000 [GRCh38]
Chr12:40671802 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4599C>T (p.Ile1533=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300960] |
Chr12:40314034 [GRCh38]
Chr12:40707836 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5342T>C (p.Val1781Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002346904] |
Chr12:40322343 [GRCh38]
Chr12:40716145 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5345A>G (p.Asp1782Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002346911] |
Chr12:40322346 [GRCh38]
Chr12:40716148 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5355T>G (p.Asp1785Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002346987] |
Chr12:40322356 [GRCh38]
Chr12:40716158 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1870G>A (p.Gly624Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002726540] |
Chr12:40274922 [GRCh38]
Chr12:40668724 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.185T>C (p.Val62Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002414901] |
Chr12:40225588 [GRCh38]
Chr12:40619390 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5666G>C (p.Ser1889Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002347337] |
Chr12:40328369 [GRCh38]
Chr12:40722171 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1867A>G (p.Thr623Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002415013] |
Chr12:40274919 [GRCh38]
Chr12:40668721 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5678T>C (p.Val1893Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002347396] |
Chr12:40328381 [GRCh38]
Chr12:40722183 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5686G>C (p.Ala1896Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002347452] |
Chr12:40328389 [GRCh38]
Chr12:40722191 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1876C>T (p.Leu626=) |
single nucleotide variant |
Inborn genetic diseases [RCV002415201] |
Chr12:40274928 [GRCh38]
Chr12:40668730 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5700A>G (p.Gly1900=) |
single nucleotide variant |
Inborn genetic diseases [RCV002347574] |
Chr12:40328403 [GRCh38]
Chr12:40722205 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4581T>C (p.Tyr1527=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342217] |
Chr12:40314016 [GRCh38]
Chr12:40707818 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5714T>C (p.Val1905Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002347656] |
Chr12:40328417 [GRCh38]
Chr12:40722219 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4319C>T (p.Ala1440Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002332013] |
Chr12:40310432 [GRCh38]
Chr12:40704234 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5730A>G (p.Lys1910=) |
single nucleotide variant |
Inborn genetic diseases [RCV002347731] |
Chr12:40328433 [GRCh38]
Chr12:40722235 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5733T>C (p.His1911=) |
single nucleotide variant |
Inborn genetic diseases [RCV002347741] |
Chr12:40328436 [GRCh38]
Chr12:40722238 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1884A>G (p.Ala628=) |
single nucleotide variant |
Inborn genetic diseases [RCV002415359] |
Chr12:40274936 [GRCh38]
Chr12:40668738 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5736A>G (p.Thr1912=) |
single nucleotide variant |
Inborn genetic diseases [RCV002347750] |
Chr12:40328439 [GRCh38]
Chr12:40722241 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4933T>G (p.Tyr1645Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002342643] |
Chr12:40320093 [GRCh38]
Chr12:40713895 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4356A>G (p.Thr1452=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332292] |
Chr12:40310469 [GRCh38]
Chr12:40704271 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4954C>G (p.Leu1652Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003102662]|Inborn genetic diseases [RCV002342748] |
Chr12:40320114 [GRCh38]
Chr12:40713916 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1069T>C (p.Leu357=) |
single nucleotide variant |
Inborn genetic diseases [RCV002410874] |
Chr12:40251342 [GRCh38]
Chr12:40645144 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.49A>C (p.Lys17Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002343005] |
Chr12:40225180 [GRCh38]
Chr12:40618982 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1166G>C (p.Gly389Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002333298] |
Chr12:40251529 [GRCh38]
Chr12:40645331 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2001G>T (p.Val667=) |
single nucleotide variant |
Inborn genetic diseases [RCV002417195] |
Chr12:40277947 [GRCh38]
Chr12:40671749 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.200T>C (p.Val67Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002417327] |
Chr12:40225603 [GRCh38]
Chr12:40619405 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5122T>G (p.Leu1708Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002344195] |
Chr12:40321140 [GRCh38]
Chr12:40714942 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.787A>C (p.Ser263Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002412296] |
Chr12:40243630 [GRCh38]
Chr12:40637432 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2110A>G (p.Met704Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002417477]|not provided [RCV003236930] |
Chr12:40278130 [GRCh38]
Chr12:40671932 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.522T>G (p.Asp174Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002344318] |
Chr12:40238054 [GRCh38]
Chr12:40631856 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1197G>A (p.Arg399=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344352] |
Chr12:40252925 [GRCh38]
Chr12:40646727 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5250A>G (p.Val1750=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344353] |
Chr12:40322114 [GRCh38]
Chr12:40715916 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.526G>A (p.Val176Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002344389] |
Chr12:40238058 [GRCh38]
Chr12:40631860 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.527T>C (p.Val176Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002344450] |
Chr12:40238059 [GRCh38]
Chr12:40631861 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5282G>A (p.Ser1761Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002344466] |
Chr12:40322146 [GRCh38]
Chr12:40715948 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5283T>C (p.Ser1761=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344472] |
Chr12:40322147 [GRCh38]
Chr12:40715949 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2113G>C (p.Asp705His) |
single nucleotide variant |
Inborn genetic diseases [RCV002417523] |
Chr12:40278133 [GRCh38]
Chr12:40671935 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2113G>T (p.Asp705Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002417524] |
Chr12:40278133 [GRCh38]
Chr12:40671935 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2117A>T (p.Asp706Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002417563] |
Chr12:40278137 [GRCh38]
Chr12:40671939 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5308T>C (p.Cys1770Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003102721]|Inborn genetic diseases [RCV002344625] |
Chr12:40322172 [GRCh38]
Chr12:40715974 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1834T>C (p.Tyr612His) |
single nucleotide variant |
Inborn genetic diseases [RCV002412709] |
Chr12:40274886 [GRCh38]
Chr12:40668688 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.218G>T (p.Arg73Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002417960] |
Chr12:40225621 [GRCh38]
Chr12:40619423 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2190A>G (p.Leu730=) |
single nucleotide variant |
Inborn genetic diseases [RCV002417964] |
Chr12:40278210 [GRCh38]
Chr12:40672012 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5589C>T (p.Asp1863=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344789] |
Chr12:40323239 [GRCh38]
Chr12:40717041 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5601T>G (p.Asn1867Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002344909] |
Chr12:40323251 [GRCh38]
Chr12:40717053 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5603T>C (p.Ile1868Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002344915] |
Chr12:40323253 [GRCh38]
Chr12:40717055 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1843A>G (p.Thr615Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002412881] |
Chr12:40274895 [GRCh38]
Chr12:40668697 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1949A>G (p.Gln650Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002413298] |
Chr12:40277895 [GRCh38]
Chr12:40671697 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1424C>G (p.Thr475Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002391892] |
Chr12:40259485 [GRCh38]
Chr12:40653287 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2168T>A (p.Ile723Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002432674] |
Chr12:40278188 [GRCh38]
Chr12:40671990 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4816A>C (p.Ile1606Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002337982] |
Chr12:40315289 [GRCh38]
Chr12:40709091 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2016C>T (p.Asp672=) |
single nucleotide variant |
Inborn genetic diseases [RCV002417412] |
Chr12:40277962 [GRCh38]
Chr12:40671764 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1074G>A (p.Thr358=) |
single nucleotide variant |
Inborn genetic diseases [RCV002417415] |
Chr12:40251347 [GRCh38]
Chr12:40645149 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2118T>G (p.Asp706Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002417577] |
Chr12:40278138 [GRCh38]
Chr12:40671940 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.351G>T (p.Leu117Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002459314] |
Chr12:40235629 [GRCh38]
Chr12:40629431 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.940A>G (p.Ser314Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002373958] |
Chr12:40249927 [GRCh38]
Chr12:40643729 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2218G>C (p.Glu740Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002425955] |
Chr12:40278238 [GRCh38]
Chr12:40672040 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6120A>C (p.Ala2040=) |
single nucleotide variant |
Inborn genetic diseases [RCV002360280] |
Chr12:40346763 [GRCh38]
Chr12:40740565 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6145A>T (p.Ile2049Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002360402] |
Chr12:40346788 [GRCh38]
Chr12:40740590 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6157C>G (p.Gln2053Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002360461] |
Chr12:40346800 [GRCh38]
Chr12:40740602 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4647C>A (p.Asp1549Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002335059] |
Chr12:40314082 [GRCh38]
Chr12:40707884 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1712T>C (p.Val571Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002398932] |
Chr12:40274638 [GRCh38]
Chr12:40668440 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2121C>T (p.Tyr707=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003101068]|Inborn genetic diseases [RCV002417628] |
Chr12:40278141 [GRCh38]
Chr12:40671943 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4666C>T (p.Leu1556=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335130] |
Chr12:40314101 [GRCh38]
Chr12:40707903 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2514A>G (p.Thr838=) |
single nucleotide variant |
Inborn genetic diseases [RCV002432962] |
Chr12:40287364 [GRCh38]
Chr12:40681166 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2131G>T (p.Val711Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002417795] |
Chr12:40278151 [GRCh38]
Chr12:40671953 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2135T>C (p.Met712Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002417846] |
Chr12:40278155 [GRCh38]
Chr12:40671957 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7005C>T (p.Leu2335=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378250] |
Chr12:40359421 [GRCh38]
Chr12:40753223 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6522C>A (p.Thr2174=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364246] |
Chr12:40351679 [GRCh38]
Chr12:40745481 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2156A>G (p.Gln719Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002417873] |
Chr12:40278176 [GRCh38]
Chr12:40671978 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.717G>A (p.Val239=) |
single nucleotide variant |
Inborn genetic diseases [RCV002370717] |
Chr12:40243560 [GRCh38]
Chr12:40637362 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1576T>C (p.Phe526Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002392634] |
Chr12:40263821 [GRCh38]
Chr12:40657623 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3349A>C (p.Asn1117His) |
single nucleotide variant |
Inborn genetic diseases [RCV002320951] |
Chr12:40299110 [GRCh38]
Chr12:40692912 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5168G>T (p.Arg1723Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002338354] |
Chr12:40321186 [GRCh38]
Chr12:40714988 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1736T>C (p.Met579Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002399258] |
Chr12:40274662 [GRCh38]
Chr12:40668464 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5181T>G (p.Leu1727=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338456] |
Chr12:40322045 [GRCh38]
Chr12:40715847 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3275A>G (p.Tyr1092Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002304044] |
Chr12:40298421 [GRCh38]
Chr12:40692223 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2775C>G (p.Cys925Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002439660] |
Chr12:40293630 [GRCh38]
Chr12:40687432 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5879A>T (p.Gln1960Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002353499] |
Chr12:40335088 [GRCh38]
Chr12:40728890 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.947T>C (p.Leu316Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002443515] |
Chr12:40249934 [GRCh38]
Chr12:40643736 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5032C>A (p.Pro1678Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002335632] |
Chr12:40321050 [GRCh38]
Chr12:40714852 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3243A>G (p.Lys1081=) |
single nucleotide variant |
Inborn genetic diseases [RCV002324806] |
Chr12:40298389 [GRCh38]
Chr12:40692191 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1226C>A (p.Ser409Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002364493] |
Chr12:40252954 [GRCh38]
Chr12:40646756 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7254C>T (p.Cys2418=) |
single nucleotide variant |
Inborn genetic diseases [RCV002371128] |
Chr12:40364914 [GRCh38]
Chr12:40758716 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.400A>T (p.Ile134Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002357840] |
Chr12:40235678 [GRCh38]
Chr12:40629480 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1272T>G (p.Thr424=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378689] |
Chr12:40253000 [GRCh38]
Chr12:40646802 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.505T>C (p.Ser169Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002335792] |
Chr12:40238037 [GRCh38]
Chr12:40631839 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6588T>C (p.Asp2196=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364520] |
Chr12:40354310 [GRCh38]
Chr12:40748112 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6627T>C (p.Val2209=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364630] |
Chr12:40354349 [GRCh38]
Chr12:40748151 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6183A>G (p.Leu2061=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353784] |
Chr12:40346826 [GRCh38]
Chr12:40740628 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3432A>T (p.Leu1144=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457040] |
Chr12:40299193 [GRCh38]
Chr12:40692995 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3045G>A (p.Lys1015=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444042]|LRRK2-related condition [RCV003896195] |
Chr12:40295593 [GRCh38]
Chr12:40689395 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6024T>A (p.Asn2008Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002358130] |
Chr12:40340369 [GRCh38]
Chr12:40734171 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7524A>T (p.Glu2508Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002393842] |
Chr12:40367705 [GRCh38]
Chr12:40761507 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.642T>G (p.Asn214Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002361739] |
Chr12:40240553 [GRCh38]
Chr12:40634355 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.698C>T (p.Ala233Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098436]|Inborn genetic diseases [RCV002364670] |
Chr12:40240609 [GRCh38]
Chr12:40634411 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4230G>A (p.Thr1410=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638833]|Inborn genetic diseases [RCV002328120] |
Chr12:40309146 [GRCh38]
Chr12:40702948 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4238C>A (p.Ala1413Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003094598]|Inborn genetic diseases [RCV002328163] |
Chr12:40309154 [GRCh38]
Chr12:40702956 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2450G>C (p.Trp817Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002450513] |
Chr12:40284083 [GRCh38]
Chr12:40677885 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.952C>T (p.Leu318Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002304506] |
Chr12:40249939 [GRCh38]
Chr12:40643741 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2939A>G (p.Glu980Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002440133] |
Chr12:40295487 [GRCh38]
Chr12:40689289 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6030C>T (p.Ala2010=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358171] |
Chr12:40340375 [GRCh38]
Chr12:40734177 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.402T>G (p.Ile134Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002375751] |
Chr12:40235680 [GRCh38]
Chr12:40629482 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3057C>T (p.His1019=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444161] |
Chr12:40295605 [GRCh38]
Chr12:40689407 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6460T>G (p.Cys2154Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002361903] |
Chr12:40351617 [GRCh38]
Chr12:40745419 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4443C>A (p.Ala1481=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328288] |
Chr12:40310556 [GRCh38]
Chr12:40704358 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7063A>G (p.Ile2355Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002365056] |
Chr12:40363436 [GRCh38]
Chr12:40757238 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7266C>T (p.Asn2422=) |
single nucleotide variant |
Inborn genetic diseases [RCV002382555] |
Chr12:40364926 [GRCh38]
Chr12:40758728 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7267A>G (p.Thr2423Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002382558] |
Chr12:40364927 [GRCh38]
Chr12:40758729 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.727A>G (p.Met243Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002382623] |
Chr12:40243570 [GRCh38]
Chr12:40637372 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7280T>C (p.Ile2427Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098526]|Inborn genetic diseases [RCV002382646] |
Chr12:40364940 [GRCh38]
Chr12:40758742 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.927G>A (p.Gln309=) |
single nucleotide variant |
Inborn genetic diseases [RCV002371460] |
Chr12:40249914 [GRCh38]
Chr12:40643716 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1983T>A (p.Ser661=) |
single nucleotide variant |
Inborn genetic diseases [RCV002423719] |
Chr12:40277929 [GRCh38]
Chr12:40671731 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6382G>A (p.Val2128Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002354073] |
Chr12:40351539 [GRCh38]
Chr12:40745341 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6386T>C (p.Phe2129Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002354081] |
Chr12:40351543 [GRCh38]
Chr12:40745345 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2948A>G (p.Tyr983Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638902]|Inborn genetic diseases [RCV002440237] |
Chr12:40295496 [GRCh38]
Chr12:40689298 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.930C>T (p.Ile310=) |
single nucleotide variant |
Inborn genetic diseases [RCV002371566] |
Chr12:40249917 [GRCh38]
Chr12:40643719 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6606A>G (p.Leu2202=) |
single nucleotide variant |
Inborn genetic diseases [RCV002375847] |
Chr12:40354328 [GRCh38]
Chr12:40748130 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7563G>A (p.Met2521Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003099682]|Inborn genetic diseases [RCV002394035] |
Chr12:40367744 [GRCh38]
Chr12:40761546 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3071C>G (p.Thr1024Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002444350] |
Chr12:40295619 [GRCh38]
Chr12:40689421 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6837T>A (p.Thr2279=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362045] |
Chr12:40356181 [GRCh38]
Chr12:40749983 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7298A>G (p.His2433Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002382707] |
Chr12:40364958 [GRCh38]
Chr12:40758760 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3684C>T (p.Ser1228=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457429] |
Chr12:40304041 [GRCh38]
Chr12:40697843 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2091G>A (p.Lys697=) |
single nucleotide variant |
Inborn genetic diseases [RCV002424054] |
Chr12:40278111 [GRCh38]
Chr12:40671913 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1037A>C (p.Lys346Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002394469] |
Chr12:40251310 [GRCh38]
Chr12:40645112 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6855T>A (p.Ala2285=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362129] |
Chr12:40359271 [GRCh38]
Chr12:40753073 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1786T>C (p.Tyr596His) |
single nucleotide variant |
Inborn genetic diseases [RCV002404159] |
Chr12:40274712 [GRCh38]
Chr12:40668514 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4527T>C (p.Leu1509=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328730] |
Chr12:40310640 [GRCh38]
Chr12:40704442 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1750G>A (p.Gly584Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002407513] |
Chr12:40274676 [GRCh38]
Chr12:40668478 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.210C>G (p.Ser70=) |
single nucleotide variant |
Inborn genetic diseases [RCV002424361] |
Chr12:40225613 [GRCh38]
Chr12:40619415 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1635G>A (p.Leu545=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401362] |
Chr12:40263880 [GRCh38]
Chr12:40657682 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2247T>C (p.Cys749=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428419] |
Chr12:40283880 [GRCh38]
Chr12:40677682 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1745T>C (p.Leu582Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002401485] |
Chr12:40274671 [GRCh38]
Chr12:40668473 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2330T>C (p.Ile777Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002448203] |
Chr12:40283963 [GRCh38]
Chr12:40677765 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.774A>G (p.Lys258=) |
single nucleotide variant |
Inborn genetic diseases [RCV002400809] |
Chr12:40243617 [GRCh38]
Chr12:40637419 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1882G>T (p.Ala628Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002415337] |
Chr12:40274934 [GRCh38]
Chr12:40668736 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5745G>A (p.Arg1915=) |
single nucleotide variant |
Inborn genetic diseases [RCV002347808] |
Chr12:40328448 [GRCh38]
Chr12:40722250 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2787G>A (p.Leu929=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441367] |
Chr12:40293642 [GRCh38]
Chr12:40687444 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3906G>C (p.Leu1302=) |
single nucleotide variant |
Inborn genetic diseases [RCV002373109]|not provided [RCV003395457] |
Chr12:40305913 [GRCh38]
Chr12:40699715 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4393T>A (p.Cys1465Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002333665] |
Chr12:40310506 [GRCh38]
Chr12:40704308 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.234G>A (p.Gln78=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448383] |
Chr12:40225637 [GRCh38]
Chr12:40619439 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3113C>T (p.Thr1038Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002326118] |
Chr12:40298259 [GRCh38]
Chr12:40692061 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1783A>G (p.Met595Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002407699] |
Chr12:40274709 [GRCh38]
Chr12:40668511 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1620T>C (p.Asn540=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401068] |
Chr12:40263865 [GRCh38]
Chr12:40657667 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5902A>G (p.Arg1968Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002355718] |
Chr12:40335111 [GRCh38]
Chr12:40728913 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5908C>T (p.Leu1970=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355733] |
Chr12:40335117 [GRCh38]
Chr12:40728919 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5910A>G (p.Leu1970=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355757] |
Chr12:40335119 [GRCh38]
Chr12:40728921 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3943G>A (p.Ala1315Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002373299] |
Chr12:40305950 [GRCh38]
Chr12:40699752 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5928C>A (p.Leu1976=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355840] |
Chr12:40335137 [GRCh38]
Chr12:40728939 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1209C>T (p.Leu403=) |
single nucleotide variant |
Inborn genetic diseases [RCV002359638] |
Chr12:40252937 [GRCh38]
Chr12:40646739 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.188C>T (p.Pro63Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002408001] |
Chr12:40225591 [GRCh38]
Chr12:40619393 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4853G>A (p.Cys1618Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002340296] |
Chr12:40320013 [GRCh38]
Chr12:40713815 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1993C>T (p.Leu665=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638881]|Inborn genetic diseases [RCV002416946] |
Chr12:40277939 [GRCh38]
Chr12:40671741 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4071C>T (p.Thr1357=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323050] |
Chr12:40308578 [GRCh38]
Chr12:40702380 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5784C>T (p.His1928=) |
single nucleotide variant |
Inborn genetic diseases [RCV002359727] |
Chr12:40334993 [GRCh38]
Chr12:40728795 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5787C>T (p.His1929=) |
single nucleotide variant |
Inborn genetic diseases [RCV002359735] |
Chr12:40334996 [GRCh38]
Chr12:40728798 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5794T>A (p.Leu1932Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002359784] |
Chr12:40335003 [GRCh38]
Chr12:40728805 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.214A>G (p.Met72Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098661]|Inborn genetic diseases [RCV002432423] |
Chr12:40225617 [GRCh38]
Chr12:40619419 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1367C>T (p.Pro456Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002383609] |
Chr12:40257326 [GRCh38]
Chr12:40651128 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1996C>T (p.Leu666=) |
single nucleotide variant |
Inborn genetic diseases [RCV002416994] |
Chr12:40277942 [GRCh38]
Chr12:40671744 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1997T>C (p.Leu666Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002417012] |
Chr12:40277943 [GRCh38]
Chr12:40671745 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.199G>C (p.Val67Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002417079] |
Chr12:40225602 [GRCh38]
Chr12:40619404 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.199G>T (p.Val67Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002417081] |
Chr12:40225602 [GRCh38]
Chr12:40619404 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5970T>A (p.Ile1990=) |
single nucleotide variant |
Inborn genetic diseases [RCV002356093] |
Chr12:40340315 [GRCh38]
Chr12:40734117 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.408G>A (p.Leu136=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323211] |
Chr12:40235686 [GRCh38]
Chr12:40629488 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2703A>G (p.Ser901=) |
single nucleotide variant |
Inborn genetic diseases [RCV002429019] |
Chr12:40293558 [GRCh38]
Chr12:40687360 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4778G>A (p.Ser1593Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002337758] |
Chr12:40315251 [GRCh38]
Chr12:40709053 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.129G>C (p.Leu43=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380765] |
Chr12:40225260 [GRCh38]
Chr12:40619062 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2003A>G (p.His668Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002417213] |
Chr12:40277949 [GRCh38]
Chr12:40671751 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7501C>A (p.Pro2501Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002391628] |
Chr12:40367682 [GRCh38]
Chr12:40761484 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7506T>C (p.His2502=) |
single nucleotide variant |
Inborn genetic diseases [RCV002391642] |
Chr12:40367687 [GRCh38]
Chr12:40761489 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2961A>G (p.Leu987=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441983] |
Chr12:40295509 [GRCh38]
Chr12:40689311 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5951A>C (p.Tyr1984Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002355992] |
Chr12:40340296 [GRCh38]
Chr12:40734098 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2263C>A (p.Pro755Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002443771] |
Chr12:40283896 [GRCh38]
Chr12:40677698 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3968A>G (p.Gln1323Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002375470] |
Chr12:40308475 [GRCh38]
Chr12:40702277 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5789C>T (p.Pro1930Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002359740] |
Chr12:40334998 [GRCh38]
Chr12:40728800 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3257A>G (p.Lys1086Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002445645] |
Chr12:40298403 [GRCh38]
Chr12:40692205 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1775C>T (p.Thr592Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002401882] |
Chr12:40274701 [GRCh38]
Chr12:40668503 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1262C>G (p.Ala421Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002447527] |
Chr12:40252990 [GRCh38]
Chr12:40646792 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3271T>G (p.Ser1091Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002325009] |
Chr12:40298417 [GRCh38]
Chr12:40692219 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4225A>G (p.Met1409Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002328067] |
Chr12:40309141 [GRCh38]
Chr12:40702943 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5227T>C (p.Ser1743Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002340822] |
Chr12:40322091 [GRCh38]
Chr12:40715893 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4292T>C (p.Met1431Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002330227] |
Chr12:40309208 [GRCh38]
Chr12:40703010 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4531T>G (p.Phe1511Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002330305] |
Chr12:40310644 [GRCh38]
Chr12:40704446 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5245C>A (p.Leu1749Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002340916] |
Chr12:40322109 [GRCh38]
Chr12:40715911 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5257G>A (p.Glu1753Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002340972] |
Chr12:40322121 [GRCh38]
Chr12:40715923 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1970A>T (p.Lys657Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003100976]|Inborn genetic diseases [RCV002423479] |
Chr12:40277916 [GRCh38]
Chr12:40671718 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3421A>G (p.Ile1141Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002456950] |
Chr12:40299182 [GRCh38]
Chr12:40692984 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3516T>G (p.Pro1172=) |
single nucleotide variant |
Inborn genetic diseases [RCV002459267] |
Chr12:40302808 [GRCh38]
Chr12:40696610 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.612T>A (p.Asp204Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002360339] |
Chr12:40240523 [GRCh38]
Chr12:40634325 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2286G>A (p.Leu762=) |
single nucleotide variant |
Inborn genetic diseases [RCV002446162] |
Chr12:40283919 [GRCh38]
Chr12:40677721 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6136G>C (p.Gly2046Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002360358] |
Chr12:40346779 [GRCh38]
Chr12:40740581 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1481A>G (p.His494Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002397146] |
Chr12:40259542 [GRCh38]
Chr12:40653344 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4638C>T (p.Pro1546=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003096393]|Inborn genetic diseases [RCV002330420] |
Chr12:40314073 [GRCh38]
Chr12:40707875 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4641A>C (p.Val1547=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330434] |
Chr12:40314076 [GRCh38]
Chr12:40707878 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4651A>G (p.Lys1551Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002330455] |
Chr12:40314086 [GRCh38]
Chr12:40707888 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2778A>T (p.Ser926=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439682] |
Chr12:40293633 [GRCh38]
Chr12:40687435 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1399A>G (p.Asn467Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002389172] |
Chr12:40257358 [GRCh38]
Chr12:40651160 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7223T>C (p.Met2408Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002370973] |
Chr12:40364883 [GRCh38]
Chr12:40758685 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7229A>T (p.Tyr2410Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002370985] |
Chr12:40364889 [GRCh38]
Chr12:40758691 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5883G>A (p.Gln1961=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353545] |
Chr12:40335092 [GRCh38]
Chr12:40728894 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7232C>T (p.Ser2411Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002371018] |
Chr12:40364892 [GRCh38]
Chr12:40758694 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3076T>A (p.Phe1026Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002319830] |
Chr12:40295624 [GRCh38]
Chr12:40689426 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3978A>T (p.Leu1326Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002375522] |
Chr12:40308485 [GRCh38]
Chr12:40702287 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3985G>T (p.Ala1329Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002375556] |
Chr12:40308492 [GRCh38]
Chr12:40702294 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5796G>C (p.Leu1932Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002359791] |
Chr12:40335005 [GRCh38]
Chr12:40728807 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4430G>A (p.Arg1477Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002333972] |
Chr12:40310543 [GRCh38]
Chr12:40704345 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4431A>G (p.Arg1477=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333975] |
Chr12:40310544 [GRCh38]
Chr12:40704346 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1650G>A (p.Leu550=) |
single nucleotide variant |
Inborn genetic diseases [RCV002395034] |
Chr12:40263895 [GRCh38]
Chr12:40657697 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1658T>C (p.Phe553Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002403766] |
Chr12:40274584 [GRCh38]
Chr12:40668386 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6444A>G (p.Lys2148=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361807] |
Chr12:40351601 [GRCh38]
Chr12:40745403 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.477T>A (p.Ile159=) |
single nucleotide variant |
Inborn genetic diseases [RCV002337776] |
Chr12:40238009 [GRCh38]
Chr12:40631811 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1566G>A (p.Glu522=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003096945]|Inborn genetic diseases [RCV002405536] |
Chr12:40263811 [GRCh38]
Chr12:40657613 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4795G>A (p.Glu1599Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002337833] |
Chr12:40315268 [GRCh38]
Chr12:40709070 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4230G>C (p.Thr1410=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328122] |
Chr12:40309146 [GRCh38]
Chr12:40702948 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3446T>G (p.Leu1149Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002457164] |
Chr12:40299207 [GRCh38]
Chr12:40693009 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1488A>C (p.Thr496=) |
single nucleotide variant |
Inborn genetic diseases [RCV002389621] |
Chr12:40259549 [GRCh38]
Chr12:40653351 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1434T>C (p.Asp478=) |
single nucleotide variant |
Inborn genetic diseases [RCV002392153] |
Chr12:40259495 [GRCh38]
Chr12:40653297 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.759G>T (p.Val253=) |
single nucleotide variant |
Inborn genetic diseases [RCV002394206] |
Chr12:40243602 [GRCh38]
Chr12:40637404 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2225C>T (p.Ser742Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002428131] |
Chr12:40278245 [GRCh38]
Chr12:40672047 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4648C>T (p.Arg1550Trp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526140]|Inborn genetic diseases [RCV002335062] |
Chr12:40314083 [GRCh38]
Chr12:40707885 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6835A>T (p.Thr2279Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002362037] |
Chr12:40356179 [GRCh38]
Chr12:40749981 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1249G>T (p.Ala417Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002400652] |
Chr12:40252977 [GRCh38]
Chr12:40646779 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2197G>A (p.Ala733Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002425616] |
Chr12:40278217 [GRCh38]
Chr12:40672019 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2975A>G (p.Asn992Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002442136] |
Chr12:40295523 [GRCh38]
Chr12:40689325 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3499G>T (p.Ala1167Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002459096] |
Chr12:40302791 [GRCh38]
Chr12:40696593 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6006T>C (p.Leu2002=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358034] |
Chr12:40340351 [GRCh38]
Chr12:40734153 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6012A>T (p.Thr2004=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358068] |
Chr12:40340357 [GRCh38]
Chr12:40734159 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6021C>A (p.Pro2007=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358122] |
Chr12:40340366 [GRCh38]
Chr12:40734168 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4000C>G (p.Arg1334Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002375666] |
Chr12:40308507 [GRCh38]
Chr12:40702309 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6076A>G (p.Arg2026Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002359961] |
Chr12:40340421 [GRCh38]
Chr12:40734223 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5094T>G (p.Pro1698=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335954] |
Chr12:40321112 [GRCh38]
Chr12:40714914 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2162A>G (p.Asn721Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526196]|Inborn genetic diseases [RCV002432607] |
Chr12:40278182 [GRCh38]
Chr12:40671984 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1605A>C (p.Lys535Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002398765] |
Chr12:40263850 [GRCh38]
Chr12:40657652 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7065A>G (p.Ile2355Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002365060] |
Chr12:40363438 [GRCh38]
Chr12:40757240 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4655G>A (p.Arg1552Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002330466] |
Chr12:40314090 [GRCh38]
Chr12:40707892 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4665A>G (p.Gln1555=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330495] |
Chr12:40314100 [GRCh38]
Chr12:40707902 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3477T>C (p.Ser1159=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457334] |
Chr12:40299238 [GRCh38]
Chr12:40693040 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2576G>T (p.Gly859Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002426044] |
Chr12:40287426 [GRCh38]
Chr12:40681228 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1512G>A (p.Ala504=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003095271]|Inborn genetic diseases [RCV002392246] |
Chr12:40259573 [GRCh38]
Chr12:40653375 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.222C>T (p.Val74=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428222] |
Chr12:40225625 [GRCh38]
Chr12:40619427 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1538T>C (p.Val513Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002403088] |
Chr12:40259599 [GRCh38]
Chr12:40653401 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.230T>C (p.Val77Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002446430] |
Chr12:40225633 [GRCh38]
Chr12:40619435 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6912T>C (p.Ser2304=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378091] |
Chr12:40359328 [GRCh38]
Chr12:40753130 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6852A>G (p.Gly2284=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362123] |
Chr12:40359268 [GRCh38]
Chr12:40753070 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2506G>A (p.Ala836Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002431143] |
Chr12:40287356 [GRCh38]
Chr12:40681158 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6864G>A (p.Leu2288=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362163] |
Chr12:40359280 [GRCh38]
Chr12:40753082 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1232C>T (p.Ser411Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002362195] |
Chr12:40252960 [GRCh38]
Chr12:40646762 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.217A>G (p.Arg73Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002432867] |
Chr12:40225620 [GRCh38]
Chr12:40619422 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4840A>G (p.Lys1614Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002338142] |
Chr12:40320000 [GRCh38]
Chr12:40713802 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.512C>T (p.Pro171Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002338166] |
Chr12:40238044 [GRCh38]
Chr12:40631846 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.994A>G (p.Lys332Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002382905] |
Chr12:40251267 [GRCh38]
Chr12:40645069 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4788C>T (p.Tyr1596=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330702] |
Chr12:40315261 [GRCh38]
Chr12:40709063 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6160G>C (p.Ala2054Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002353667] |
Chr12:40346803 [GRCh38]
Chr12:40740605 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2982A>G (p.Leu994=) |
single nucleotide variant |
Inborn genetic diseases [RCV002442224] |
Chr12:40295530 [GRCh38]
Chr12:40689332 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7527A>G (p.Lys2509=) |
single nucleotide variant |
Inborn genetic diseases [RCV002393850] |
Chr12:40367708 [GRCh38]
Chr12:40761510 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7529A>G (p.His2510Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002393855] |
Chr12:40367710 [GRCh38]
Chr12:40761512 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6031A>G (p.Ile2011Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002358172] |
Chr12:40340376 [GRCh38]
Chr12:40734178 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7535A>C (p.Glu2512Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002393899] |
Chr12:40367716 [GRCh38]
Chr12:40761518 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.270A>T (p.Glu90Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002429072] |
Chr12:40232306 [GRCh38]
Chr12:40626108 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4102A>G (p.Thr1368Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002323355] |
Chr12:40308609 [GRCh38]
Chr12:40702411 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1261G>A (p.Ala421Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002445895] |
Chr12:40252989 [GRCh38]
Chr12:40646791 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5104A>G (p.Met1702Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638839]|Inborn genetic diseases [RCV002336008] |
Chr12:40321122 [GRCh38]
Chr12:40714924 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4808T>C (p.Leu1603Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002337920] |
Chr12:40315281 [GRCh38]
Chr12:40709083 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3770T>C (p.Leu1257Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002363867] |
Chr12:40304127 [GRCh38]
Chr12:40697929 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4810T>C (p.Cys1604Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002337963] |
Chr12:40315283 [GRCh38]
Chr12:40709085 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2169C>T (p.Ile723=) |
single nucleotide variant |
Inborn genetic diseases [RCV002432689] |
Chr12:40278189 [GRCh38]
Chr12:40671991 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7070T>C (p.Val2357Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098463]|Inborn genetic diseases [RCV002365101] |
Chr12:40363443 [GRCh38]
Chr12:40757245 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4458C>T (p.His1486=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328392] |
Chr12:40310571 [GRCh38]
Chr12:40704373 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7080C>T (p.Asp2360=) |
single nucleotide variant |
Inborn genetic diseases [RCV002365136] |
Chr12:40363453 [GRCh38]
Chr12:40757255 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.678G>A (p.Leu226=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369404] |
Chr12:40240589 [GRCh38]
Chr12:40634391 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2445T>C (p.Pro815=) |
single nucleotide variant |
Inborn genetic diseases [RCV002455393] |
Chr12:40284078 [GRCh38]
Chr12:40677880 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2396C>A (p.Ala799Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002459611] |
Chr12:40284029 [GRCh38]
Chr12:40677831 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3168A>T (p.Lys1056Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002322588] |
Chr12:40298314 [GRCh38]
Chr12:40692116 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.897G>A (p.Val299=) |
single nucleotide variant |
Inborn genetic diseases [RCV002376253] |
Chr12:40249884 [GRCh38]
Chr12:40643686 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1448T>G (p.Val483Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002394499] |
Chr12:40259509 [GRCh38]
Chr12:40653311 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4686G>A (p.Leu1562=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335227] |
Chr12:40314121 [GRCh38]
Chr12:40707923 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.762G>T (p.Val254=) |
single nucleotide variant |
Inborn genetic diseases [RCV002396310] |
Chr12:40243605 [GRCh38]
Chr12:40637407 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4698A>G (p.Glu1566=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335276] |
Chr12:40314133 [GRCh38]
Chr12:40707935 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6886G>A (p.Val2296Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002362253] |
Chr12:40359302 [GRCh38]
Chr12:40753104 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6887T>C (p.Val2296Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002362257] |
Chr12:40359303 [GRCh38]
Chr12:40753105 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6891T>C (p.Ser2297=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362285] |
Chr12:40359307 [GRCh38]
Chr12:40753109 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1009G>A (p.Glu337Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002431307] |
Chr12:40251282 [GRCh38]
Chr12:40645084 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5142G>A (p.Glu1714=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338208] |
Chr12:40321160 [GRCh38]
Chr12:40714962 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3597G>T (p.Arg1199=) |
single nucleotide variant |
Inborn genetic diseases [RCV002339853] |
Chr12:40303954 [GRCh38]
Chr12:40697756 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1033G>A (p.Asp345Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002389389] |
Chr12:40251306 [GRCh38]
Chr12:40645108 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6490A>T (p.Asn2164Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002356249] |
Chr12:40351647 [GRCh38]
Chr12:40745449 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6580G>A (p.Val2194Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002375786] |
Chr12:40354302 [GRCh38]
Chr12:40748104 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.305C>G (p.Pro102Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002444185] |
Chr12:40232341 [GRCh38]
Chr12:40626143 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.819G>T (p.Leu273Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003099857]|Inborn genetic diseases [RCV002427894] |
Chr12:40243662 [GRCh38]
Chr12:40637464 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6060T>C (p.Ile2020=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358324] |
Chr12:40340405 [GRCh38]
Chr12:40734207 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.60A>T (p.Ile20=) |
single nucleotide variant |
Inborn genetic diseases [RCV002360136] |
Chr12:40225191 [GRCh38]
Chr12:40618993 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4818C>A (p.Ile1606=) |
single nucleotide variant |
Inborn genetic diseases [RCV002337994] |
Chr12:40315291 [GRCh38]
Chr12:40709093 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3798T>C (p.Cys1266=) |
single nucleotide variant |
Inborn genetic diseases [RCV002363935] |
Chr12:40305805 [GRCh38]
Chr12:40699607 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2171T>A (p.Met724Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002432748] |
Chr12:40278191 [GRCh38]
Chr12:40671993 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.76G>A (p.Val26Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002400591] |
Chr12:40225207 [GRCh38]
Chr12:40619009 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2062G>T (p.Asp688Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002422002] |
Chr12:40278008 [GRCh38]
Chr12:40671810 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1347G>A (p.Met449Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002387855] |
Chr12:40257306 [GRCh38]
Chr12:40651108 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6830A>C (p.Asp2277Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002369652] |
Chr12:40356174 [GRCh38]
Chr12:40749976 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6831T>C (p.Asp2277=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369659] |
Chr12:40356175 [GRCh38]
Chr12:40749977 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2067A>G (p.Gln689=) |
single nucleotide variant |
Inborn genetic diseases [RCV002422050] |
Chr12:40278013 [GRCh38]
Chr12:40671815 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3137A>C (p.Lys1046Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002320652] |
Chr12:40298283 [GRCh38]
Chr12:40692085 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2400C>A (p.Asn800Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002459654] |
Chr12:40284033 [GRCh38]
Chr12:40677835 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.313G>A (p.Val105Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002320702] |
Chr12:40232349 [GRCh38]
Chr12:40626151 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1743C>G (p.Ser581=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401435] |
Chr12:40274669 [GRCh38]
Chr12:40668471 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6983A>G (p.Asn2328Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002378184] |
Chr12:40359399 [GRCh38]
Chr12:40753201 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4717G>A (p.Val1573Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002335370] |
Chr12:40314152 [GRCh38]
Chr12:40707954 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5155A>T (p.Met1719Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002338280] |
Chr12:40321173 [GRCh38]
Chr12:40714975 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4513A>G (p.Ile1505Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002339938] |
Chr12:40310626 [GRCh38]
Chr12:40704428 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.474T>C (p.Asp158=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330625] |
Chr12:40238006 [GRCh38]
Chr12:40631808 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3431T>C (p.Leu1144Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002457036] |
Chr12:40299192 [GRCh38]
Chr12:40692994 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6216A>C (p.Arg2072Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002353883] |
Chr12:40346859 [GRCh38]
Chr12:40740661 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3520T>G (p.Ser1174Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002459331] |
Chr12:40302812 [GRCh38]
Chr12:40696614 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7569A>C (p.Arg2523=) |
single nucleotide variant |
Inborn genetic diseases [RCV002394049] |
Chr12:40367750 [GRCh38]
Chr12:40761552 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3067C>G (p.Leu1023Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002444283] |
Chr12:40295615 [GRCh38]
Chr12:40689417 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7571C>T (p.Thr2524Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002394084] |
Chr12:40367752 [GRCh38]
Chr12:40761554 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.306C>T (p.Pro102=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444320] |
Chr12:40232342 [GRCh38]
Chr12:40626144 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6141T>C (p.Asn2047=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638846]|Inborn genetic diseases [RCV002360388] |
Chr12:40346784 [GRCh38]
Chr12:40740586 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.2292T>C (p.Ser764=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003101203]|Inborn genetic diseases [RCV002446244] |
Chr12:40283925 [GRCh38]
Chr12:40677727 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6834G>T (p.Lys2278Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002362034] |
Chr12:40356178 [GRCh38]
Chr12:40749980 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.855C>T (p.Ile285=) |
single nucleotide variant |
Inborn genetic diseases [RCV002447854] |
Chr12:40249842 [GRCh38]
Chr12:40643644 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3812C>A (p.Thr1271Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002363993] |
Chr12:40305819 [GRCh38]
Chr12:40699621 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2174T>C (p.Val725Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526197]|Inborn genetic diseases [RCV002432795] |
Chr12:40278194 [GRCh38]
Chr12:40671996 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1453C>A (p.Pro485Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002394653] |
Chr12:40259514 [GRCh38]
Chr12:40653316 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1453C>T (p.Pro485Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638873]|Inborn genetic diseases [RCV002394658] |
Chr12:40259514 [GRCh38]
Chr12:40653316 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2386C>T (p.Leu796=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428542] |
Chr12:40284019 [GRCh38]
Chr12:40677821 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2388G>C (p.Leu796=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428547] |
Chr12:40284021 [GRCh38]
Chr12:40677823 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1182T>C (p.His394=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335400] |
Chr12:40252910 [GRCh38]
Chr12:40646712 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.694C>T (p.Leu232=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362451] |
Chr12:40240605 [GRCh38]
Chr12:40634407 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.233A>G (p.Gln78Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002448265] |
Chr12:40225636 [GRCh38]
Chr12:40619438 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1129C>A (p.Leu377Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002325988] |
Chr12:40251492 [GRCh38]
Chr12:40645294 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6522C>G (p.Thr2174=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364247] |
Chr12:40351679 [GRCh38]
Chr12:40745481 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6522C>T (p.Thr2174=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098281]|Inborn genetic diseases [RCV002364250] |
Chr12:40351679 [GRCh38]
Chr12:40745481 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5162C>T (p.Ser1721Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002338325] |
Chr12:40321180 [GRCh38]
Chr12:40714982 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1772A>T (p.His591Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002407669] |
Chr12:40274698 [GRCh38]
Chr12:40668500 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.451C>T (p.Leu151=) |
single nucleotide variant |
Inborn genetic diseases [RCV002339983] |
Chr12:40237983 [GRCh38]
Chr12:40631785 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.177T>C (p.Asn59=) |
single nucleotide variant |
Inborn genetic diseases [RCV002407686] |
Chr12:40225580 [GRCh38]
Chr12:40619382 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4779T>A (p.Ser1593Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002330674] |
Chr12:40315252 [GRCh38]
Chr12:40709054 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4871G>A (p.Gly1624Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002330810] |
Chr12:40320031 [GRCh38]
Chr12:40713833 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4871G>T (p.Gly1624Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002330811] |
Chr12:40320031 [GRCh38]
Chr12:40713833 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3527C>T (p.Thr1176Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002459366] |
Chr12:40302819 [GRCh38]
Chr12:40696621 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1087A>G (p.Asn363Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002428084] |
Chr12:40251360 [GRCh38]
Chr12:40645162 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2297C>G (p.Ser766Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002446268] |
Chr12:40283930 [GRCh38]
Chr12:40677732 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6744G>T (p.Leu2248Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002377948] |
Chr12:40354466 [GRCh38]
Chr12:40748268 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4658T>C (p.Leu1553Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002335092] |
Chr12:40314093 [GRCh38]
Chr12:40707895 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2303A>G (p.Glu768Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002446354] |
Chr12:40283936 [GRCh38]
Chr12:40677738 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.856C>T (p.Leu286=) |
single nucleotide variant |
Inborn genetic diseases [RCV002447878] |
Chr12:40249843 [GRCh38]
Chr12:40643645 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1100A>G (p.Gln367Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002431110] |
Chr12:40251373 [GRCh38]
Chr12:40645175 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6856G>T (p.Ala2286Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002362130] |
Chr12:40359272 [GRCh38]
Chr12:40753074 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.483G>A (p.Met161Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638838]|Inborn genetic diseases [RCV002338133] |
Chr12:40238015 [GRCh38]
Chr12:40631817 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.869A>G (p.Glu290Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002449709] |
Chr12:40249856 [GRCh38]
Chr12:40643658 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5847A>G (p.Leu1949=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353307] |
Chr12:40335056 [GRCh38]
Chr12:40728858 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7198G>C (p.Glu2400Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002370802] |
Chr12:40364858 [GRCh38]
Chr12:40758660 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.380C>T (p.Ala127Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002355231] |
Chr12:40235658 [GRCh38]
Chr12:40629460 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3818T>A (p.Leu1273Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002355286] |
Chr12:40305825 [GRCh38]
Chr12:40699627 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3819G>A (p.Leu1273=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355291] |
Chr12:40305826 [GRCh38]
Chr12:40699628 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3882A>T (p.Ile1294=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357361] |
Chr12:40305889 [GRCh38]
Chr12:40699691 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2623T>A (p.Trp875Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002426421] |
Chr12:40287473 [GRCh38]
Chr12:40681275 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3191A>G (p.Asp1064Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002322867] |
Chr12:40298337 [GRCh38]
Chr12:40692139 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7167C>T (p.Cys2389=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378373] |
Chr12:40363540 [GRCh38]
Chr12:40757342 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4735T>A (p.Ser1579Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002335491] |
Chr12:40314170 [GRCh38]
Chr12:40707972 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7308C>T (p.Leu2436=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380025] |
Chr12:40364968 [GRCh38]
Chr12:40758770 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3112A>G (p.Thr1038Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002326102] |
Chr12:40298258 [GRCh38]
Chr12:40692060 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6536T>C (p.Leu2179Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002364297] |
Chr12:40351693 [GRCh38]
Chr12:40745495 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.777A>G (p.Ala259=) |
single nucleotide variant |
Inborn genetic diseases [RCV002409797] |
Chr12:40243620 [GRCh38]
Chr12:40637422 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.780C>T (p.Phe260=) |
single nucleotide variant |
Inborn genetic diseases [RCV002409947] |
Chr12:40243623 [GRCh38]
Chr12:40637425 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1251A>G (p.Ala417=) |
single nucleotide variant |
Inborn genetic diseases [RCV002409985] |
Chr12:40252979 [GRCh38]
Chr12:40646781 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6320T>C (p.Val2107Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002354000] |
Chr12:40348448 [GRCh38]
Chr12:40742250 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2581G>A (p.Asp861Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002426065] |
Chr12:40287431 [GRCh38]
Chr12:40681233 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1233A>G (p.Ser411=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378045] |
Chr12:40252961 [GRCh38]
Chr12:40646763 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.467A>C (p.Glu156Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002335189] |
Chr12:40237999 [GRCh38]
Chr12:40631801 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7493T>A (p.Ile2498Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002296355] |
Chr12:40367674 [GRCh38]
Chr12:40761476 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2181C>T (p.Cys727=) |
single nucleotide variant |
Inborn genetic diseases [RCV002432910] |
Chr12:40278201 [GRCh38]
Chr12:40672003 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7225T>A (p.Ser2409Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002370974] |
Chr12:40364885 [GRCh38]
Chr12:40758687 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7251C>G (p.Leu2417=) |
single nucleotide variant |
Inborn genetic diseases [RCV002371118] |
Chr12:40364911 [GRCh38]
Chr12:40758713 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6171T>C (p.Tyr2057=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638847]|Inborn genetic diseases [RCV002353717] |
Chr12:40346814 [GRCh38]
Chr12:40740616 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3828T>C (p.Ser1276=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355377] |
Chr12:40305835 [GRCh38]
Chr12:40699637 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3852T>C (p.Phe1284=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355494] |
Chr12:40305859 [GRCh38]
Chr12:40699661 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3301A>G (p.Asn1101Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002326224] |
Chr12:40298447 [GRCh38]
Chr12:40692249 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4183T>A (p.Phe1395Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002327729] |
Chr12:40308690 [GRCh38]
Chr12:40702492 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5184C>T (p.Arg1728=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338469] |
Chr12:40322048 [GRCh38]
Chr12:40715850 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4548G>A (p.Gln1516=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003094750]|Inborn genetic diseases [RCV002340138] |
Chr12:40313983 [GRCh38]
Chr12:40707785 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1355A>G (p.His452Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002383337] |
Chr12:40257314 [GRCh38]
Chr12:40651116 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1066G>A (p.Ala356Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002407937] |
Chr12:40251339 [GRCh38]
Chr12:40645141 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1629C>A (p.His543Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002401211] |
Chr12:40263874 [GRCh38]
Chr12:40657676 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4815A>G (p.Lys1605=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330750] |
Chr12:40315288 [GRCh38]
Chr12:40709090 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2946A>C (p.Glu982Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002440217] |
Chr12:40295494 [GRCh38]
Chr12:40689296 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1492T>C (p.Leu498=) |
single nucleotide variant |
Inborn genetic diseases [RCV002389738] |
Chr12:40259553 [GRCh38]
Chr12:40653355 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.238G>A (p.Val80Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002459564] |
Chr12:40232274 [GRCh38]
Chr12:40626076 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.692C>T (p.Ser231Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002378124] |
Chr12:40240603 [GRCh38]
Chr12:40634405 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4689G>A (p.Gln1563=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335232] |
Chr12:40314124 [GRCh38]
Chr12:40707926 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6963A>C (p.Thr2321=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378158] |
Chr12:40359379 [GRCh38]
Chr12:40753181 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1542T>C (p.Pro514=) |
single nucleotide variant |
Inborn genetic diseases [RCV002403206] |
Chr12:40259603 [GRCh38]
Chr12:40653405 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6901A>T (p.Met2301Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002362324] |
Chr12:40359317 [GRCh38]
Chr12:40753119 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5151T>G (p.Pro1717=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338268] |
Chr12:40321169 [GRCh38]
Chr12:40714971 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.886G>A (p.Val296Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002449846] |
Chr12:40249873 [GRCh38]
Chr12:40643675 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1529A>G (p.His510Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002400826] |
Chr12:40259590 [GRCh38]
Chr12:40653392 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.862T>G (p.Leu288Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003099991]|Inborn genetic diseases [RCV002371176] |
Chr12:40249849 [GRCh38]
Chr12:40643651 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1115G>T (p.Trp372Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002441594] |
Chr12:40251478 [GRCh38]
Chr12:40645280 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3357A>G (p.Ile1119Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002321021] |
Chr12:40299118 [GRCh38]
Chr12:40692920 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3950A>G (p.Asp1317Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002357616] |
Chr12:40305957 [GRCh38]
Chr12:40699759 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4039A>G (p.Lys1347Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002359586] |
Chr12:40308546 [GRCh38]
Chr12:40702348 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5761C>A (p.Leu1921Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002359597] |
Chr12:40334970 [GRCh38]
Chr12:40728772 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2140G>C (p.Glu714Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002430549] |
Chr12:40278160 [GRCh38]
Chr12:40671962 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6399T>G (p.Asn2133Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002361533] |
Chr12:40351556 [GRCh38]
Chr12:40745358 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.145G>C (p.Glu49Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002396708] |
Chr12:40225276 [GRCh38]
Chr12:40619078 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5192G>A (p.Arg1731Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002338516] |
Chr12:40322056 [GRCh38]
Chr12:40715858 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6572C>G (p.Ser2191Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002364464] |
Chr12:40351729 [GRCh38]
Chr12:40745531 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4564C>G (p.Leu1522Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002340216] |
Chr12:40313999 [GRCh38]
Chr12:40707801 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4851T>C (p.Gly1617=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340292] |
Chr12:40320011 [GRCh38]
Chr12:40713813 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3604G>C (p.Asp1202His) |
single nucleotide variant |
Inborn genetic diseases [RCV002455255] |
Chr12:40303961 [GRCh38]
Chr12:40697763 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3480C>G (p.Ala1160=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457370] |
Chr12:40299241 [GRCh38]
Chr12:40693043 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3132T>A (p.Ser1044Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002320618] |
Chr12:40298278 [GRCh38]
Chr12:40692080 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2244A>G (p.Val748=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428392] |
Chr12:40283877 [GRCh38]
Chr12:40677679 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1058G>A (p.Cys353Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002401425] |
Chr12:40251331 [GRCh38]
Chr12:40645133 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7035T>C (p.Ser2345=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378267] |
Chr12:40363408 [GRCh38]
Chr12:40757210 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2328G>A (p.Thr776=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448172] |
Chr12:40283961 [GRCh38]
Chr12:40677763 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4521G>A (p.Glu1507=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340005] |
Chr12:40310634 [GRCh38]
Chr12:40704436 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3433T>C (p.Ser1145Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002457054] |
Chr12:40299194 [GRCh38]
Chr12:40692996 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.343C>T (p.His115Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002457106] |
Chr12:40232379 [GRCh38]
Chr12:40626181 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6313C>T (p.Pro2105Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002353979] |
Chr12:40348441 [GRCh38]
Chr12:40742243 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.103C>T (p.Leu35=) |
single nucleotide variant |
Inborn genetic diseases [RCV002389611] |
Chr12:40225234 [GRCh38]
Chr12:40619036 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7470A>C (p.Gln2490His) |
single nucleotide variant |
Inborn genetic diseases [RCV002391463] |
Chr12:40367651 [GRCh38]
Chr12:40761453 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3944C>T (p.Ala1315Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002373301] |
Chr12:40305951 [GRCh38]
Chr12:40699753 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5915A>G (p.His1972Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002355770] |
Chr12:40335124 [GRCh38]
Chr12:40728926 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5916C>T (p.His1972=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355774] |
Chr12:40335125 [GRCh38]
Chr12:40728927 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.294C>T (p.Ser98=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441844] |
Chr12:40232330 [GRCh38]
Chr12:40626132 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7482C>A (p.Thr2494=) |
single nucleotide variant |
Inborn genetic diseases [RCV002391514] |
Chr12:40367663 [GRCh38]
Chr12:40761465 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3951C>T (p.Asp1317=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357621] |
Chr12:40305958 [GRCh38]
Chr12:40699760 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2252A>G (p.Lys751Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002443561] |
Chr12:40283885 [GRCh38]
Chr12:40677687 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1089C>T (p.Asn363=) |
single nucleotide variant |
Inborn genetic diseases [RCV002443627] |
Chr12:40251362 [GRCh38]
Chr12:40645164 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1765G>A (p.Val589Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002401727] |
Chr12:40274691 [GRCh38]
Chr12:40668493 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1615A>C (p.Lys539Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002394857] |
Chr12:40263860 [GRCh38]
Chr12:40657662 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2148G>A (p.Ala716=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526195]|Inborn genetic diseases [RCV002430643]|LRRK2-related condition [RCV003943402] |
Chr12:40278168 [GRCh38]
Chr12:40671970 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7369G>A (p.Val2457Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002380339] |
Chr12:40365029 [GRCh38]
Chr12:40758831 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7380A>T (p.Thr2460=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380413] |
Chr12:40365040 [GRCh38]
Chr12:40758842 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.169G>A (p.Gly57Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002406290] |
Chr12:40225572 [GRCh38]
Chr12:40619374 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4865C>T (p.Pro1622Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002340369] |
Chr12:40320025 [GRCh38]
Chr12:40713827 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2503A>G (p.Ile835Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002455625] |
Chr12:40287353 [GRCh38]
Chr12:40681155 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3686A>C (p.His1229Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002457437] |
Chr12:40304043 [GRCh38]
Chr12:40697845 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3687T>A (p.His1229Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002457446] |
Chr12:40304044 [GRCh38]
Chr12:40697846 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2604G>A (p.Val868=) |
single nucleotide variant |
Inborn genetic diseases [RCV002426280] |
Chr12:40287454 [GRCh38]
Chr12:40681256 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3181G>A (p.Ala1061Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002322755] |
Chr12:40298327 [GRCh38]
Chr12:40692129 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6959G>T (p.Gly2320Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002362464] |
Chr12:40359375 [GRCh38]
Chr12:40753177 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6967A>T (p.Ile2323Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002362494] |
Chr12:40359383 [GRCh38]
Chr12:40753185 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2524A>G (p.Met842Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002433077] |
Chr12:40287374 [GRCh38]
Chr12:40681176 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.9T>C (p.Ser3=) |
single nucleotide variant |
Inborn genetic diseases [RCV002383168] |
Chr12:40225140 [GRCh38]
Chr12:40618942 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.638C>G (p.Thr213Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002354093] |
Chr12:40240549 [GRCh38]
Chr12:40634351 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3470G>A (p.Ser1157Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002457289] |
Chr12:40299231 [GRCh38]
Chr12:40693033 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1266G>C (p.Leu422Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002373380] |
Chr12:40252994 [GRCh38]
Chr12:40646796 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7491C>T (p.Asp2497=) |
single nucleotide variant |
Inborn genetic diseases [RCV002391567] |
Chr12:40367672 [GRCh38]
Chr12:40761474 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5932G>A (p.Val1978Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002355889] |
Chr12:40335141 [GRCh38]
Chr12:40728943 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2182T>C (p.Leu728=) |
single nucleotide variant |
Inborn genetic diseases [RCV002425440] |
Chr12:40278202 [GRCh38]
Chr12:40672004 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4044C>G (p.Thr1348=) |
single nucleotide variant |
Inborn genetic diseases [RCV002321225] |
Chr12:40308551 [GRCh38]
Chr12:40702353 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.39G>A (p.Glu13=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357798] |
Chr12:40225170 [GRCh38]
Chr12:40618972 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5773T>C (p.Cys1925Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002359676] |
Chr12:40334982 [GRCh38]
Chr12:40728784 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.176A>G (p.Asn59Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002401792] |
Chr12:40225579 [GRCh38]
Chr12:40619381 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3250A>G (p.Thr1084Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002445617] |
Chr12:40298396 [GRCh38]
Chr12:40692198 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3251C>A (p.Thr1084Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002324895] |
Chr12:40298397 [GRCh38]
Chr12:40692199 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1222C>G (p.His408Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002361647] |
Chr12:40252950 [GRCh38]
Chr12:40646752 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1465A>G (p.Thr489Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002396807] |
Chr12:40259526 [GRCh38]
Chr12:40653328 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6415T>C (p.Cys2139Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002361650] |
Chr12:40351572 [GRCh38]
Chr12:40745374 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3254T>G (p.Leu1085Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002324910] |
Chr12:40298400 [GRCh38]
Chr12:40692202 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.910G>A (p.Glu304Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002378670] |
Chr12:40249897 [GRCh38]
Chr12:40643699 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6420G>A (p.Leu2140=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361680] |
Chr12:40351577 [GRCh38]
Chr12:40745379 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1559C>A (p.Ser520Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002405362] |
Chr12:40263804 [GRCh38]
Chr12:40657606 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6593G>T (p.Arg2198Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002364544] |
Chr12:40354315 [GRCh38]
Chr12:40748117 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2556G>T (p.Val852=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433342] |
Chr12:40287406 [GRCh38]
Chr12:40681208 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6607G>A (p.Ala2203Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002364574] |
Chr12:40354329 [GRCh38]
Chr12:40748131 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1368T>C (p.Pro456=) |
single nucleotide variant |
Inborn genetic diseases [RCV002383635] |
Chr12:40257327 [GRCh38]
Chr12:40651129 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.136A>T (p.Thr46Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002383665] |
Chr12:40225267 [GRCh38]
Chr12:40619069 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.678G>T (p.Leu226=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369409] |
Chr12:40240589 [GRCh38]
Chr12:40634391 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3607A>G (p.Met1203Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002455276] |
Chr12:40303964 [GRCh38]
Chr12:40697766 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.67C>T (p.Leu23=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098384]|Inborn genetic diseases [RCV002369475] |
Chr12:40225198 [GRCh38]
Chr12:40619000 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6810C>A (p.Gly2270=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369547] |
Chr12:40356154 [GRCh38]
Chr12:40749956 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2321C>T (p.Ala774Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002457567] |
Chr12:40283954 [GRCh38]
Chr12:40677756 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1509G>A (p.Glu503=) |
single nucleotide variant |
Inborn genetic diseases [RCV002390056] |
Chr12:40259570 [GRCh38]
Chr12:40653372 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3188T>C (p.Leu1063Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002322811] |
Chr12:40298334 [GRCh38]
Chr12:40692136 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3215C>T (p.Pro1072Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002324634] |
Chr12:40298361 [GRCh38]
Chr12:40692163 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7164C>T (p.Asp2388=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378370] |
Chr12:40363537 [GRCh38]
Chr12:40757339 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1385G>C (p.Gly462Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002396514] |
Chr12:40257344 [GRCh38]
Chr12:40651146 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7304T>C (p.Leu2435Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002380016] |
Chr12:40364964 [GRCh38]
Chr12:40758766 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7305A>C (p.Leu2435Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002380017] |
Chr12:40364965 [GRCh38]
Chr12:40758767 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7308C>A (p.Leu2436=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380024] |
Chr12:40364968 [GRCh38]
Chr12:40758770 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2354A>G (p.Gln785Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002448450] |
Chr12:40283987 [GRCh38]
Chr12:40677789 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1136T>C (p.Met379Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002326163] |
Chr12:40251499 [GRCh38]
Chr12:40645301 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1625T>G (p.Ile542Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002401146] |
Chr12:40263870 [GRCh38]
Chr12:40657672 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.17G>A (p.Cys6Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002407888] |
Chr12:40225148 [GRCh38]
Chr12:40618950 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5941G>T (p.Gly1981Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002355931] |
Chr12:40335150 [GRCh38]
Chr12:40728952 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5943T>C (p.Gly1981=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098073]|Inborn genetic diseases [RCV002355938] |
Chr12:40335152 [GRCh38]
Chr12:40728954 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7509A>G (p.Glu2503=) |
single nucleotide variant |
Inborn genetic diseases [RCV002391645] |
Chr12:40367690 [GRCh38]
Chr12:40761492 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3964C>T (p.Leu1322Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002375455] |
Chr12:40308471 [GRCh38]
Chr12:40702273 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2269T>C (p.Leu757=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003775166]|Inborn genetic diseases [RCV002443853] |
Chr12:40283902 [GRCh38]
Chr12:40677704 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2677C>T (p.Leu893=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428856] |
Chr12:40287527 [GRCh38]
Chr12:40681329 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1646C>A (p.Ala549Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002394980] |
Chr12:40263891 [GRCh38]
Chr12:40657693 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6429C>T (p.Arg2143=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361704] |
Chr12:40351586 [GRCh38]
Chr12:40745388 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5061C>T (p.Asn1687=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335800] |
Chr12:40321079 [GRCh38]
Chr12:40714881 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5064T>C (p.Ser1688=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335811] |
Chr12:40321082 [GRCh38]
Chr12:40714884 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1291A>G (p.Asn431Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002380540] |
Chr12:40257250 [GRCh38]
Chr12:40651052 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1562G>T (p.Arg521Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002405451] |
Chr12:40263807 [GRCh38]
Chr12:40657609 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1048C>T (p.Leu350=) |
single nucleotide variant |
Inborn genetic diseases [RCV002398592] |
Chr12:40251321 [GRCh38]
Chr12:40645123 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.255G>A (p.Leu85=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638892]|Inborn genetic diseases [RCV002433379] |
Chr12:40232291 [GRCh38]
Chr12:40626093 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2561A>G (p.Glu854Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002433394] |
Chr12:40287411 [GRCh38]
Chr12:40681213 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4215T>A (p.His1405Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002327986] |
Chr12:40309131 [GRCh38]
Chr12:40702933 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4220A>G (p.His1407Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002328038] |
Chr12:40309136 [GRCh38]
Chr12:40702938 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4886G>C (p.Arg1629Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002340505] |
Chr12:40320046 [GRCh38]
Chr12:40713848 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4259A>C (p.Asp1420Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002329915] |
Chr12:40309175 [GRCh38]
Chr12:40702977 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4259A>G (p.Asp1420Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002329916] |
Chr12:40309175 [GRCh38]
Chr12:40702977 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6822T>G (p.Ile2274Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526159]|Inborn genetic diseases [RCV002369615] |
Chr12:40356166 [GRCh38]
Chr12:40749968 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6832A>G (p.Lys2278Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002369662] |
Chr12:40356176 [GRCh38]
Chr12:40749978 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2370C>T (p.Leu790=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457772]|not provided [RCV003312056] |
Chr12:40284003 [GRCh38]
Chr12:40677805 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1095C>T (p.His365=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098838]|Inborn genetic diseases [RCV002457875] |
Chr12:40251368 [GRCh38]
Chr12:40645170 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.2624G>C (p.Trp875Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002426428] |
Chr12:40287474 [GRCh38]
Chr12:40681276 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3890T>C (p.Leu1297Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002357405] |
Chr12:40305897 [GRCh38]
Chr12:40699699 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2627C>G (p.Thr876Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002426443] |
Chr12:40287477 [GRCh38]
Chr12:40681279 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3895T>C (p.Leu1299=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357428] |
Chr12:40305902 [GRCh38]
Chr12:40699704 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3899A>G (p.Asp1300Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002357438] |
Chr12:40305906 [GRCh38]
Chr12:40699708 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2639A>T (p.Asp880Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002428616] |
Chr12:40287489 [GRCh38]
Chr12:40681291 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3194T>C (p.Val1065Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002322889] |
Chr12:40298340 [GRCh38]
Chr12:40692142 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2139A>G (p.Leu713=) |
single nucleotide variant |
Inborn genetic diseases [RCV002430476] |
Chr12:40278159 [GRCh38]
Chr12:40671961 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4744C>T (p.Leu1582Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002335529] |
Chr12:40315217 [GRCh38]
Chr12:40709019 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.138G>C (p.Thr46=) |
single nucleotide variant |
Inborn genetic diseases [RCV002396653]|not provided [RCV003395467] |
Chr12:40225269 [GRCh38]
Chr12:40619071 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7340T>C (p.Val2447Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002380213] |
Chr12:40365000 [GRCh38]
Chr12:40758802 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2361C>T (p.Ile787=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448550] |
Chr12:40283994 [GRCh38]
Chr12:40677796 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7347C>T (p.Tyr2449=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380229] |
Chr12:40365007 [GRCh38]
Chr12:40758809 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.330A>G (p.Glu110=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326279] |
Chr12:40232366 [GRCh38]
Chr12:40626168 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6558T>C (p.Thr2186=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364389] |
Chr12:40351715 [GRCh38]
Chr12:40745517 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.655G>A (p.Glu219Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002364407] |
Chr12:40240566 [GRCh38]
Chr12:40634368 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6562G>A (p.Gly2188Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002364423] |
Chr12:40351719 [GRCh38]
Chr12:40745521 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4558G>A (p.Gly1520Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002340181] |
Chr12:40313993 [GRCh38]
Chr12:40707795 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4560A>T (p.Gly1520=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340201] |
Chr12:40313995 [GRCh38]
Chr12:40707797 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1628A>G (p.His543Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002401193] |
Chr12:40263873 [GRCh38]
Chr12:40657675 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.245G>T (p.Trp82Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002455476] |
Chr12:40232281 [GRCh38]
Chr12:40626083 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1212C>T (p.Ser404=) |
single nucleotide variant |
Inborn genetic diseases [RCV002356040] |
Chr12:40252940 [GRCh38]
Chr12:40646742 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3072G>A (p.Thr1024=) |
single nucleotide variant |
Inborn genetic diseases [RCV002319790] |
Chr12:40295620 [GRCh38]
Chr12:40689422 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3976T>C (p.Leu1326=) |
single nucleotide variant |
Inborn genetic diseases [RCV002375516] |
Chr12:40308483 [GRCh38]
Chr12:40702285 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1776A>C (p.Thr592=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401890] |
Chr12:40274702 [GRCh38]
Chr12:40668504 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3268C>G (p.Leu1090Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002445682] |
Chr12:40298414 [GRCh38]
Chr12:40692216 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6439C>A (p.Pro2147Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638850]|Inborn genetic diseases [RCV002361762] |
Chr12:40351596 [GRCh38]
Chr12:40745398 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1470T>C (p.Val490=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638875]|Inborn genetic diseases [RCV002396934] |
Chr12:40259531 [GRCh38]
Chr12:40653333 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3279C>T (p.Asn1093=) |
single nucleotide variant |
Inborn genetic diseases [RCV002325045] |
Chr12:40298425 [GRCh38]
Chr12:40692227 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2483A>C (p.Asn828Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002430817] |
Chr12:40284116 [GRCh38]
Chr12:40677918 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1007A>C (p.Gln336Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002432554] |
Chr12:40251280 [GRCh38]
Chr12:40645082 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1909C>A (p.Arg637=) |
single nucleotide variant |
Inborn genetic diseases [RCV002408413] |
Chr12:40274961 [GRCh38]
Chr12:40668763 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2079C>T (p.Asn693=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098603]|Inborn genetic diseases [RCV002422257] |
Chr12:40278099 [GRCh38]
Chr12:40671901 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3858T>C (p.Asn1286=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355523] |
Chr12:40305865 [GRCh38]
Chr12:40699667 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.96A>G (p.Ile32Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002376633] |
Chr12:40225227 [GRCh38]
Chr12:40619029 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2655T>C (p.Ser885=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428699] |
Chr12:40287505 [GRCh38]
Chr12:40681307 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3222G>A (p.Val1074=) |
single nucleotide variant |
Inborn genetic diseases [RCV002445495] |
Chr12:40298368 [GRCh38]
Chr12:40692170 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.502C>T (p.His168Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002335617] |
Chr12:40238034 [GRCh38]
Chr12:40631836 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2144G>C (p.Arg715Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638886]|Inborn genetic diseases [RCV002430599] |
Chr12:40278164 [GRCh38]
Chr12:40671966 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2145A>G (p.Arg715=) |
single nucleotide variant |
Inborn genetic diseases [RCV002430603] |
Chr12:40278165 [GRCh38]
Chr12:40671967 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1643C>T (p.Ala548Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002403586] |
Chr12:40263888 [GRCh38]
Chr12:40657690 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7352T>G (p.Phe2451Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002380254] |
Chr12:40365012 [GRCh38]
Chr12:40758814 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7353T>C (p.Phe2451=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380256] |
Chr12:40365013 [GRCh38]
Chr12:40758815 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1584T>C (p.His528=) |
single nucleotide variant |
Inborn genetic diseases [RCV002398298] |
Chr12:40263829 [GRCh38]
Chr12:40657631 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3456T>C (p.Cys1152=) |
single nucleotide variant |
Inborn genetic diseases [RCV002337465] |
Chr12:40299217 [GRCh38]
Chr12:40693019 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7362G>A (p.Ser2454=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380316] |
Chr12:40365022 [GRCh38]
Chr12:40758824 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3471T>C (p.Ser1157=) |
single nucleotide variant |
Inborn genetic diseases [RCV002337505] |
Chr12:40299232 [GRCh38]
Chr12:40693034 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5195T>C (p.Met1732Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002338532] |
Chr12:40322059 [GRCh38]
Chr12:40715861 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2543T>G (p.Met848Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003101949]|Inborn genetic diseases [RCV002433245] |
Chr12:40287393 [GRCh38]
Chr12:40681195 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1632A>G (p.Lys544=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401312] |
Chr12:40263877 [GRCh38]
Chr12:40657679 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1363T>C (p.Ser455Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003095037]|Inborn genetic diseases [RCV002383552] |
Chr12:40257322 [GRCh38]
Chr12:40651124 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5837T>C (p.Val1946Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002353260] |
Chr12:40335046 [GRCh38]
Chr12:40728848 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5842G>C (p.Glu1948Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002353294] |
Chr12:40335051 [GRCh38]
Chr12:40728853 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3078T>C (p.Phe1026=) |
single nucleotide variant |
Inborn genetic diseases [RCV002319847] |
Chr12:40295626 [GRCh38]
Chr12:40689428 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3042A>G (p.Glu1014=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444016] |
Chr12:40295590 [GRCh38]
Chr12:40689392 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1245C>T (p.Phe415=) |
single nucleotide variant |
Inborn genetic diseases [RCV002393837] |
Chr12:40252973 [GRCh38]
Chr12:40646775 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6034A>G (p.Ile2012Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002358183] |
Chr12:40340379 [GRCh38]
Chr12:40734181 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4099G>T (p.Ala1367Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526135]|Inborn genetic diseases [RCV002323288] |
Chr12:40308606 [GRCh38]
Chr12:40702408 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.846T>C (p.Phe282=) |
single nucleotide variant |
Inborn genetic diseases [RCV002447601] |
Chr12:40249833 [GRCh38]
Chr12:40643635 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6441T>C (p.Pro2147=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361802] |
Chr12:40351598 [GRCh38]
Chr12:40745400 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1273C>G (p.Leu425Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002378812] |
Chr12:40253001 [GRCh38]
Chr12:40646803 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5082A>G (p.Leu1694=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335898] |
Chr12:40321100 [GRCh38]
Chr12:40714902 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7046T>A (p.Phe2349Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002364962] |
Chr12:40363419 [GRCh38]
Chr12:40757221 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.704C>T (p.Pro235Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002364971] |
Chr12:40240615 [GRCh38]
Chr12:40634417 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2458C>T (p.Pro820Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002450551] |
Chr12:40284091 [GRCh38]
Chr12:40677893 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4444A>T (p.Ile1482Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002328296] |
Chr12:40310557 [GRCh38]
Chr12:40704359 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2459C>T (p.Pro820Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002450558] |
Chr12:40284092 [GRCh38]
Chr12:40677894 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.444C>T (p.Ile148=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328328] |
Chr12:40237976 [GRCh38]
Chr12:40631778 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.116T>C (p.Leu39Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002330074] |
Chr12:40225247 [GRCh38]
Chr12:40619049 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.427C>T (p.Leu143=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330106] |
Chr12:40235705 [GRCh38]
Chr12:40629507 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4281A>G (p.Glu1427=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330125] |
Chr12:40309197 [GRCh38]
Chr12:40702999 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5223T>C (p.Asn1741=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340815] |
Chr12:40322087 [GRCh38]
Chr12:40715889 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5826C>T (p.Pro1942=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353177] |
Chr12:40335035 [GRCh38]
Chr12:40728837 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5829G>C (p.Arg1943=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353190] |
Chr12:40335038 [GRCh38]
Chr12:40728840 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2753G>A (p.Arg918Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002439395] |
Chr12:40293608 [GRCh38]
Chr12:40687410 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2754A>C (p.Arg918=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439399] |
Chr12:40293609 [GRCh38]
Chr12:40687411 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.386T>G (p.Val129Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002355609] |
Chr12:40235664 [GRCh38]
Chr12:40629466 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3360A>G (p.Ser1120=) |
single nucleotide variant |
Inborn genetic diseases [RCV002321077] |
Chr12:40299121 [GRCh38]
Chr12:40692923 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3463G>A (p.Val1155Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002460228] |
Chr12:40299224 [GRCh38]
Chr12:40693026 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2664T>C (p.Ala888=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428767] |
Chr12:40287514 [GRCh38]
Chr12:40681316 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2666A>G (p.Gln889Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002428770] |
Chr12:40287516 [GRCh38]
Chr12:40681318 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.909A>G (p.Pro303=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003100096]|Inborn genetic diseases [RCV002378601] |
Chr12:40249896 [GRCh38]
Chr12:40643698 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.324T>C (p.Asp108=) |
single nucleotide variant |
Inborn genetic diseases [RCV002324884] |
Chr12:40232360 [GRCh38]
Chr12:40626162 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1464A>G (p.Leu488=) |
single nucleotide variant |
Inborn genetic diseases [RCV002396785] |
Chr12:40259525 [GRCh38]
Chr12:40653327 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.158A>T (p.Lys53Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002398393] |
Chr12:40225561 [GRCh38]
Chr12:40619363 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3325C>T (p.Leu1109=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326416] |
Chr12:40298471 [GRCh38]
Chr12:40692273 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1591A>C (p.Asn531His) |
single nucleotide variant |
Inborn genetic diseases [RCV002398440] |
Chr12:40263836 [GRCh38]
Chr12:40657638 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1557A>G (p.Glu519=) |
single nucleotide variant |
Inborn genetic diseases [RCV002405323] |
Chr12:40263802 [GRCh38]
Chr12:40657604 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4200A>G (p.Glu1400=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003094584]|Inborn genetic diseases [RCV002327869] |
Chr12:40309116 [GRCh38]
Chr12:40702918 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1095C>A (p.His365Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002450185] |
Chr12:40251368 [GRCh38]
Chr12:40645170 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1703C>T (p.Ser568Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002406339] |
Chr12:40274629 [GRCh38]
Chr12:40668431 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2553T>C (p.Ala851=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526206]|Inborn genetic diseases [RCV002433325] |
Chr12:40287403 [GRCh38]
Chr12:40681205 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4241T>C (p.Leu1414Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002329780] |
Chr12:40309157 [GRCh38]
Chr12:40702959 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1902C>T (p.Ser634=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003097336]|Inborn genetic diseases [RCV002408282] |
Chr12:40274954 [GRCh38]
Chr12:40668756 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1068A>G (p.Ala356=) |
single nucleotide variant |
Inborn genetic diseases [RCV002408350] |
Chr12:40251341 [GRCh38]
Chr12:40645143 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2761G>T (p.Val921Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002439512] |
Chr12:40293616 [GRCh38]
Chr12:40687418 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5852C>T (p.Ser1951Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002353348] |
Chr12:40335061 [GRCh38]
Chr12:40728863 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5855A>G (p.Lys1952Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002353359] |
Chr12:40335064 [GRCh38]
Chr12:40728866 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5877T>G (p.Leu1959=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353492] |
Chr12:40335086 [GRCh38]
Chr12:40728888 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.721G>A (p.Val241Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002370960] |
Chr12:40243564 [GRCh38]
Chr12:40637366 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6478C>T (p.His2160Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002356189] |
Chr12:40351635 [GRCh38]
Chr12:40745437 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3502A>G (p.Met1168Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002459156] |
Chr12:40302794 [GRCh38]
Chr12:40696596 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7534G>A (p.Glu2512Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002393896] |
Chr12:40367715 [GRCh38]
Chr12:40761517 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2697A>C (p.Glu899Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002091529]|not specified [RCV002246683] |
Chr12:40293552 [GRCh38]
Chr12:40687354 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_198578.4(LRRK2):c.436+15T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002127542] |
Chr12:40235729 [GRCh38]
Chr12:40629531 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.707-13T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002084987] |
Chr12:40243537 [GRCh38]
Chr12:40637339 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.201C>T (p.Val67=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002167699] |
Chr12:40225604 [GRCh38]
Chr12:40619406 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3741A>G (p.Val1247=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002171839]|Inborn genetic diseases [RCV003365706] |
Chr12:40304098 [GRCh38]
Chr12:40697900 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1299A>G (p.Arg433=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002212936] |
Chr12:40257258 [GRCh38]
Chr12:40651060 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3906G>A (p.Leu1302=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002132903] |
Chr12:40305913 [GRCh38]
Chr12:40699715 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1373T>C (p.Val458Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003115792] |
Chr12:40257332 [GRCh38]
Chr12:40651134 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3316G>C (p.Val1106Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003119046] |
Chr12:40298462 [GRCh38]
Chr12:40692264 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3589C>T (p.His1197Tyr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003105067]|Inborn genetic diseases [RCV003162127] |
Chr12:40302881 [GRCh38]
Chr12:40696683 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.144C>T (p.Ser48=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278472] |
Chr12:40225275 [GRCh38]
Chr12:40619077 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2865A>G (p.Ser955=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278473] |
Chr12:40294901 [GRCh38]
Chr12:40688703 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6595A>C (p.Ile2199Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003278474] |
Chr12:40354317 [GRCh38]
Chr12:40748119 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4214A>T (p.His1405Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003278475] |
Chr12:40309130 [GRCh38]
Chr12:40702932 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2039C>T (p.Ser680Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003278500] |
Chr12:40277985 [GRCh38]
Chr12:40671787 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4847A>G (p.Glu1616Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003278501] |
Chr12:40320007 [GRCh38]
Chr12:40713809 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6650C>G (p.Ser2217Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003278502] |
Chr12:40354372 [GRCh38]
Chr12:40748174 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3644C>A (p.Ala1215Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003278504] |
Chr12:40304001 [GRCh38]
Chr12:40697803 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5563A>G (p.Ile1855Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003278450] |
Chr12:40323213 [GRCh38]
Chr12:40717015 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.770T>C (p.Met257Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003278451] |
Chr12:40243613 [GRCh38]
Chr12:40637415 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2963A>G (p.Asp988Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003278452] |
Chr12:40295511 [GRCh38]
Chr12:40689313 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.336T>C (p.Leu112=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278457] |
Chr12:40232372 [GRCh38]
Chr12:40626174 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4235G>A (p.Arg1412Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002273280]|Inborn genetic diseases [RCV002332951] |
Chr12:40309151 [GRCh38]
Chr12:40702953 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6234G>A (p.Lys2078=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366590] |
Chr12:40346877 [GRCh38]
Chr12:40740679 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3749T>C (p.Leu1250Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002349281] |
Chr12:40304106 [GRCh38]
Chr12:40697908 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3382C>A (p.Leu1128Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002451836] |
Chr12:40299143 [GRCh38]
Chr12:40692945 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6647T>C (p.Val2216Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002366825] |
Chr12:40354369 [GRCh38]
Chr12:40748171 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3003C>A (p.Ser1001Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002435687] |
Chr12:40295551 [GRCh38]
Chr12:40689353 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4540C>T (p.Arg1514Ter) |
single nucleotide variant |
not provided [RCV002292854] |
Chr12:40313975 [GRCh38]
Chr12:40707777 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.192_193del (p.Leu65fs) |
deletion |
not specified [RCV003236358] |
Chr12:40225594..40225595 [GRCh38]
Chr12:40619396..40619397 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4289C>T (p.Ala1430Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003101655]|Inborn genetic diseases [RCV002332961]|not provided [RCV002290952] |
Chr12:40309205 [GRCh38]
Chr12:40703007 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5430A>G (p.Lys1810=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349549] |
Chr12:40322431 [GRCh38]
Chr12:40716233 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6667A>G (p.Thr2223Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002366920] |
Chr12:40354389 [GRCh38]
Chr12:40748191 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5439A>G (p.Leu1813=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349575] |
Chr12:40322440 [GRCh38]
Chr12:40716242 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6669T>C (p.Thr2223=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366928] |
Chr12:40354391 [GRCh38]
Chr12:40748193 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1237G>A (p.Glu413Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002367408] |
Chr12:40252965 [GRCh38]
Chr12:40646767 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7110C>T (p.Ser2370=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367410] |
Chr12:40363483 [GRCh38]
Chr12:40757285 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7111C>T (p.Pro2371Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002367413] |
Chr12:40363484 [GRCh38]
Chr12:40757286 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.714T>C (p.Asn238=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367538] |
Chr12:40243557 [GRCh38]
Chr12:40637359 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6731C>A (p.Ser2244Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002369169] |
Chr12:40354453 [GRCh38]
Chr12:40748255 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.352del (p.Ile118fs) |
deletion |
not provided [RCV003129434] |
Chr12:40235630 [GRCh38]
Chr12:40629432 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.87A>G (p.Gly29=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300966] |
Chr12:40225218 [GRCh38]
Chr12:40619020 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1443A>C (p.Ala481=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300967] |
Chr12:40259504 [GRCh38]
Chr12:40653306 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.186G>A (p.Val62=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003100900]|Inborn genetic diseases [RCV002415080] |
Chr12:40225589 [GRCh38]
Chr12:40619391 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2157G>A (p.Gln719=) |
single nucleotide variant |
Inborn genetic diseases [RCV002417877] |
Chr12:40278177 [GRCh38]
Chr12:40671979 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2159A>C (p.Asn720Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002417881] |
Chr12:40278179 [GRCh38]
Chr12:40671981 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1262C>A (p.Ala421Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002414368] |
Chr12:40252990 [GRCh38]
Chr12:40646792 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5049C>G (p.Pro1683=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335701] |
Chr12:40321067 [GRCh38]
Chr12:40714869 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3519T>A (p.Pro1173=) |
single nucleotide variant |
Inborn genetic diseases [RCV002459286] |
Chr12:40302811 [GRCh38]
Chr12:40696613 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3066A>G (p.Ala1022=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444274] |
Chr12:40295614 [GRCh38]
Chr12:40689416 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4689G>C (p.Gln1563His) |
single nucleotide variant |
Inborn genetic diseases [RCV002330543] |
Chr12:40314124 [GRCh38]
Chr12:40707926 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.468A>G (p.Glu156=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330549] |
Chr12:40238000 [GRCh38]
Chr12:40631802 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6048T>C (p.Ala2016=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358241] |
Chr12:40340393 [GRCh38]
Chr12:40734195 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7543A>G (p.Lys2515Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002393951] |
Chr12:40367724 [GRCh38]
Chr12:40761526 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.270A>C (p.Glu90Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002429064] |
Chr12:40232306 [GRCh38]
Chr12:40626108 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6084G>A (p.Gly2028=) |
single nucleotide variant |
Inborn genetic diseases [RCV002360017] |
Chr12:40340429 [GRCh38]
Chr12:40734231 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6092C>T (p.Thr2031Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002360062] |
Chr12:40340437 [GRCh38]
Chr12:40734239 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4109G>C (p.Gly1370Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002323389] |
Chr12:40308616 [GRCh38]
Chr12:40702418 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6452T>C (p.Ile2151Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002361855] |
Chr12:40351609 [GRCh38]
Chr12:40745411 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5092C>T (p.Pro1698Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002335945] |
Chr12:40321110 [GRCh38]
Chr12:40714912 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5093C>T (p.Pro1698Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002335949] |
Chr12:40321111 [GRCh38]
Chr12:40714913 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4803G>A (p.Lys1601=) |
single nucleotide variant |
Inborn genetic diseases [RCV002337895] |
Chr12:40315276 [GRCh38]
Chr12:40709078 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.129G>A (p.Leu43=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380762] |
Chr12:40225260 [GRCh38]
Chr12:40619062 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7068A>T (p.Thr2356=) |
single nucleotide variant |
Inborn genetic diseases [RCV002365066] |
Chr12:40363441 [GRCh38]
Chr12:40757243 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7261A>C (p.Lys2421Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002382541] |
Chr12:40364921 [GRCh38]
Chr12:40758723 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4455C>T (p.Tyr1485=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328377] |
Chr12:40310568 [GRCh38]
Chr12:40704370 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7273C>T (p.Leu2425Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002382599] |
Chr12:40364933 [GRCh38]
Chr12:40758735 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7083T>A (p.Thr2361=) |
single nucleotide variant |
Inborn genetic diseases [RCV002365145] |
Chr12:40363456 [GRCh38]
Chr12:40757258 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.582G>C (p.Glu194Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002353226] |
Chr12:40240493 [GRCh38]
Chr12:40634295 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.275G>A (p.Cys92Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002439477] |
Chr12:40232311 [GRCh38]
Chr12:40626113 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3934G>A (p.Gly1312Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002373239] |
Chr12:40305941 [GRCh38]
Chr12:40699743 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.745T>G (p.Cys249Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002391424] |
Chr12:40243588 [GRCh38]
Chr12:40637390 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5908C>G (p.Leu1970Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002355730] |
Chr12:40335117 [GRCh38]
Chr12:40728919 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7468C>A (p.Gln2490Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002391446] |
Chr12:40367649 [GRCh38]
Chr12:40761451 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3979A>G (p.Lys1327Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002357726] |
Chr12:40308486 [GRCh38]
Chr12:40702288 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.225G>T (p.Ala75=) |
single nucleotide variant |
Inborn genetic diseases [RCV002443711] |
Chr12:40225628 [GRCh38]
Chr12:40619430 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5778C>T (p.His1926=) |
single nucleotide variant |
Inborn genetic diseases [RCV002359691] |
Chr12:40334987 [GRCh38]
Chr12:40728789 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6414C>G (p.Val2138=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361645] |
Chr12:40351571 [GRCh38]
Chr12:40745373 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5052T>C (p.His1684=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335747] |
Chr12:40321070 [GRCh38]
Chr12:40714872 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7399A>C (p.Lys2467Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002380483] |
Chr12:40367014 [GRCh38]
Chr12:40760816 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1595T>C (p.Met532Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002398520] |
Chr12:40263840 [GRCh38]
Chr12:40657642 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3334C>T (p.Leu1112Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002326515] |
Chr12:40298480 [GRCh38]
Chr12:40692282 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1596G>T (p.Met532Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002398533] |
Chr12:40263841 [GRCh38]
Chr12:40657643 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4207A>T (p.Ser1403Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002327905] |
Chr12:40309123 [GRCh38]
Chr12:40702925 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2399A>G (p.Asn800Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002450222] |
Chr12:40284032 [GRCh38]
Chr12:40677834 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4209T>C (p.Ser1403=) |
single nucleotide variant |
Inborn genetic diseases [RCV002327920] |
Chr12:40309125 [GRCh38]
Chr12:40702927 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6625G>C (p.Val2209Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002364624] |
Chr12:40354347 [GRCh38]
Chr12:40748149 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2402A>G (p.Asn801Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002450262] |
Chr12:40284035 [GRCh38]
Chr12:40677837 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.420T>C (p.Asp140=) |
single nucleotide variant |
Inborn genetic diseases [RCV002327958] |
Chr12:40235698 [GRCh38]
Chr12:40629500 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7240G>A (p.Val2414Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002371066] |
Chr12:40364900 [GRCh38]
Chr12:40758702 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6498C>T (p.Ser2166=) |
single nucleotide variant |
Inborn genetic diseases [RCV002356258] |
Chr12:40351655 [GRCh38]
Chr12:40745457 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6499A>G (p.Ile2167Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638851]|Inborn genetic diseases [RCV002356259] |
Chr12:40351656 [GRCh38]
Chr12:40745458 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6501T>A (p.Ile2167=) |
single nucleotide variant |
Inborn genetic diseases [RCV002356281] |
Chr12:40351658 [GRCh38]
Chr12:40745460 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2989A>G (p.Ile997Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002442293] |
Chr12:40295537 [GRCh38]
Chr12:40689339 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2207A>G (p.Asn736Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002425799] |
Chr12:40278227 [GRCh38]
Chr12:40672029 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6058A>G (p.Ile2020Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002358286] |
Chr12:40340403 [GRCh38]
Chr12:40734205 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6061G>T (p.Ala2021Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002358328] |
Chr12:40340406 [GRCh38]
Chr12:40734208 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4112T>A (p.Ile1371Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002323429] |
Chr12:40308619 [GRCh38]
Chr12:40702421 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.60A>G (p.Ile20Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002360134] |
Chr12:40225191 [GRCh38]
Chr12:40618993 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6100G>T (p.Gly2034Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002360180] |
Chr12:40340445 [GRCh38]
Chr12:40734247 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6116G>A (p.Arg2039His) |
single nucleotide variant |
Inborn genetic diseases [RCV002360247] |
Chr12:40346759 [GRCh38]
Chr12:40740561 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6461G>T (p.Cys2154Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098257]|Inborn genetic diseases [RCV002361907] |
Chr12:40351618 [GRCh38]
Chr12:40745420 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2491A>G (p.Lys831Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002430943] |
Chr12:40284124 [GRCh38]
Chr12:40677926 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.850A>G (p.Asn284Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002447738] |
Chr12:40249837 [GRCh38]
Chr12:40643639 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7290A>G (p.Gly2430=) |
single nucleotide variant |
Inborn genetic diseases [RCV002382683] |
Chr12:40364950 [GRCh38]
Chr12:40758752 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5850C>T (p.Ala1950=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353342] |
Chr12:40335059 [GRCh38]
Chr12:40728861 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5857G>T (p.Gly1953Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002353366] |
Chr12:40335066 [GRCh38]
Chr12:40728868 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1810T>C (p.Cys604Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002410177] |
Chr12:40274862 [GRCh38]
Chr12:40668664 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4576T>C (p.Cys1526Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002342163] |
Chr12:40314011 [GRCh38]
Chr12:40707813 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4164C>T (p.Leu1388=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333343] |
Chr12:40308671 [GRCh38]
Chr12:40702473 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4167C>T (p.Val1389=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003102531]|Inborn genetic diseases [RCV002333360] |
Chr12:40308674 [GRCh38]
Chr12:40702476 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4170A>C (p.Leu1390=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333398] |
Chr12:40308677 [GRCh38]
Chr12:40702479 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.531G>A (p.Gln177=) |
single nucleotide variant |
Inborn genetic diseases [RCV002346780] |
Chr12:40238063 [GRCh38]
Chr12:40631865 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5324T>A (p.Ile1775Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002346803] |
Chr12:40322325 [GRCh38]
Chr12:40716127 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1401T>A (p.Asn467Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002389301] |
Chr12:40257360 [GRCh38]
Chr12:40651162 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1966C>T (p.Leu656Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002423400] |
Chr12:40277912 [GRCh38]
Chr12:40671714 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.39G>C (p.Glu13Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002375637] |
Chr12:40225170 [GRCh38]
Chr12:40618972 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7518T>C (p.Asn2506=) |
single nucleotide variant |
Inborn genetic diseases [RCV002393807] |
Chr12:40367699 [GRCh38]
Chr12:40761501 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2485T>G (p.Leu829Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002430853] |
Chr12:40284118 [GRCh38]
Chr12:40677920 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4221T>C (p.His1407=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328045] |
Chr12:40309137 [GRCh38]
Chr12:40702939 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7019C>G (p.Thr2340Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002364848] |
Chr12:40359435 [GRCh38]
Chr12:40753237 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2447C>G (p.Ser816Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002450478] |
Chr12:40284080 [GRCh38]
Chr12:40677882 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4351G>T (p.Gly1451Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002332279] |
Chr12:40310464 [GRCh38]
Chr12:40704266 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1922T>C (p.Val641Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002410745] |
Chr12:40274974 [GRCh38]
Chr12:40668776 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4359T>C (p.His1453=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332319] |
Chr12:40310472 [GRCh38]
Chr12:40704274 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4957C>T (p.Leu1653=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342759] |
Chr12:40320117 [GRCh38]
Chr12:40713919 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6189C>G (p.Leu2063=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353798] |
Chr12:40346832 [GRCh38]
Chr12:40740634 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3039T>G (p.Leu1013=) |
single nucleotide variant |
Inborn genetic diseases [RCV002443967] |
Chr12:40295587 [GRCh38]
Chr12:40689389 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7532T>A (p.Ile2511Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002393889] |
Chr12:40367713 [GRCh38]
Chr12:40761515 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6438A>G (p.Leu2146=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361760] |
Chr12:40351595 [GRCh38]
Chr12:40745397 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2909A>C (p.His970Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002439790] |
Chr12:40295457 [GRCh38]
Chr12:40689259 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1965C>A (p.Ile655=) |
single nucleotide variant |
Inborn genetic diseases [RCV002423379] |
Chr12:40277911 [GRCh38]
Chr12:40671713 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2916C>T (p.Asp972=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439879] |
Chr12:40295464 [GRCh38]
Chr12:40689266 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6174A>G (p.Ser2058=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353725] |
Chr12:40346817 [GRCh38]
Chr12:40740619 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2271G>A (p.Leu757=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526200]|Inborn genetic diseases [RCV002443903] |
Chr12:40283904 [GRCh38]
Chr12:40677706 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2475G>A (p.Lys825=) |
single nucleotide variant |
Inborn genetic diseases [RCV002443913] |
Chr12:40284108 [GRCh38]
Chr12:40677910 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6424A>G (p.Arg2142Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002361692] |
Chr12:40351581 [GRCh38]
Chr12:40745383 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.653A>C (p.Glu218Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002364303] |
Chr12:40240564 [GRCh38]
Chr12:40634366 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4553T>C (p.Val1518Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002340170] |
Chr12:40313988 [GRCh38]
Chr12:40707790 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4582G>C (p.Val1528Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002342219] |
Chr12:40314017 [GRCh38]
Chr12:40707819 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4585G>A (p.Glu1529Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002342236] |
Chr12:40314020 [GRCh38]
Chr12:40707822 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4368T>A (p.Val1456=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333479] |
Chr12:40310481 [GRCh38]
Chr12:40704283 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1692A>G (p.Leu564=) |
single nucleotide variant |
Inborn genetic diseases [RCV002414647] |
Chr12:40274618 [GRCh38]
Chr12:40668420 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1700T>C (p.Ile567Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002414697] |
Chr12:40274626 [GRCh38]
Chr12:40668428 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6210A>G (p.Gly2070=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353871] |
Chr12:40346853 [GRCh38]
Chr12:40740655 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1034A>G (p.Asp345Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002389529] |
Chr12:40251307 [GRCh38]
Chr12:40645109 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1488A>G (p.Thr496=) |
single nucleotide variant |
Inborn genetic diseases [RCV002389623] |
Chr12:40259549 [GRCh38]
Chr12:40653351 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6591T>C (p.Ser2197=) |
single nucleotide variant |
Inborn genetic diseases [RCV002375808] |
Chr12:40354313 [GRCh38]
Chr12:40748115 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.918A>G (p.Ala306=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378908] |
Chr12:40249905 [GRCh38]
Chr12:40643707 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2495A>C (p.Gln832Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002430991] |
Chr12:40284128 [GRCh38]
Chr12:40677930 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7069G>C (p.Val2357Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002365069] |
Chr12:40363442 [GRCh38]
Chr12:40757244 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7071G>A (p.Val2357=) |
single nucleotide variant |
Inborn genetic diseases [RCV002365103] |
Chr12:40363444 [GRCh38]
Chr12:40757246 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7077A>G (p.Val2359=) |
single nucleotide variant |
Inborn genetic diseases [RCV002365114] |
Chr12:40363450 [GRCh38]
Chr12:40757252 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7079A>G (p.Asp2360Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002365120] |
Chr12:40363452 [GRCh38]
Chr12:40757254 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4470C>T (p.Ala1490=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328484] |
Chr12:40310583 [GRCh38]
Chr12:40704385 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4363G>T (p.Asp1455Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002332372] |
Chr12:40310476 [GRCh38]
Chr12:40704278 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6273A>T (p.Lys2091Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002353910] |
Chr12:40346916 [GRCh38]
Chr12:40740718 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7549T>C (p.Leu2517=) |
single nucleotide variant |
Inborn genetic diseases [RCV002393962] |
Chr12:40367730 [GRCh38]
Chr12:40761532 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6446A>G (p.Asn2149Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002361813] |
Chr12:40351603 [GRCh38]
Chr12:40745405 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.248C>T (p.Ser83Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002430914] |
Chr12:40232284 [GRCh38]
Chr12:40626086 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2684G>A (p.Ser895Asn) |
single nucleotide variant |
not provided [RCV002300764] |
Chr12:40287534 [GRCh38]
Chr12:40681336 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6266A>G (p.Gln2089Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002353901] |
Chr12:40346909 [GRCh38]
Chr12:40740711 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6013C>T (p.Leu2005=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358074] |
Chr12:40340358 [GRCh38]
Chr12:40734160 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6019C>G (p.Pro2007Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002358089] |
Chr12:40340364 [GRCh38]
Chr12:40734166 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7521A>G (p.Leu2507=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638860]|Inborn genetic diseases [RCV002393836] |
Chr12:40367702 [GRCh38]
Chr12:40761504 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6039A>G (p.Ala2013=) |
single nucleotide variant |
Inborn genetic diseases [RCV002358192] |
Chr12:40340384 [GRCh38]
Chr12:40734186 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5071A>G (p.Ile1691Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002335839] |
Chr12:40321089 [GRCh38]
Chr12:40714891 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6435A>G (p.Leu2145=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361755] |
Chr12:40351592 [GRCh38]
Chr12:40745394 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3274T>A (p.Tyr1092Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002325025] |
Chr12:40298420 [GRCh38]
Chr12:40692222 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3274T>C (p.Tyr1092His) |
single nucleotide variant |
Inborn genetic diseases [RCV002325026] |
Chr12:40298420 [GRCh38]
Chr12:40692222 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6447C>T (p.Asn2149=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361816] |
Chr12:40351604 [GRCh38]
Chr12:40745406 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3372C>T (p.Ser1124=) |
single nucleotide variant |
Inborn genetic diseases [RCV002451755] |
Chr12:40299133 [GRCh38]
Chr12:40692935 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1356T>G (p.His452Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003095022]|Inborn genetic diseases [RCV002383376] |
Chr12:40257315 [GRCh38]
Chr12:40651117 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3373C>G (p.Pro1125Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002451762] |
Chr12:40299134 [GRCh38]
Chr12:40692936 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3374C>T (p.Pro1125Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002451768] |
Chr12:40299135 [GRCh38]
Chr12:40692937 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3375C>T (p.Pro1125=) |
single nucleotide variant |
Inborn genetic diseases [RCV002451774] |
Chr12:40299136 [GRCh38]
Chr12:40692938 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1888A>T (p.Ile630Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002407963] |
Chr12:40274940 [GRCh38]
Chr12:40668742 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4599C>G (p.Ile1533Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002342309] |
Chr12:40314034 [GRCh38]
Chr12:40707836 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4305C>A (p.Leu1435=) |
single nucleotide variant |
Inborn genetic diseases [RCV002331916] |
Chr12:40309221 [GRCh38]
Chr12:40703023 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5702A>G (p.Glu1901Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002347581] |
Chr12:40328405 [GRCh38]
Chr12:40722207 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1121T>C (p.Leu374Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002440224] |
Chr12:40251484 [GRCh38]
Chr12:40645286 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.887T>A (p.Val296Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002375978] |
Chr12:40249874 [GRCh38]
Chr12:40643676 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.126G>T (p.Leu42=) |
single nucleotide variant |
Inborn genetic diseases [RCV002376152] |
Chr12:40225257 [GRCh38]
Chr12:40619059 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.893C>T (p.Ala298Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002376178] |
Chr12:40249880 [GRCh38]
Chr12:40643682 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1481A>T (p.His494Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002397147] |
Chr12:40259542 [GRCh38]
Chr12:40653344 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4502G>A (p.Arg1501Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002328710] |
Chr12:40310615 [GRCh38]
Chr12:40704417 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3417C>T (p.Asn1139=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333002] |
Chr12:40299178 [GRCh38]
Chr12:40692980 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4134C>T (p.Ile1378=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333083] |
Chr12:40308641 [GRCh38]
Chr12:40702443 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4156A>G (p.Arg1386Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002333271] |
Chr12:40308663 [GRCh38]
Chr12:40702465 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6395T>G (p.Leu2132Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002354107] |
Chr12:40351552 [GRCh38]
Chr12:40745354 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6472A>G (p.Thr2158Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002361957] |
Chr12:40351629 [GRCh38]
Chr12:40745431 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6838G>A (p.Val2280Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002362049] |
Chr12:40356182 [GRCh38]
Chr12:40749984 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6309A>G (p.Pro2103=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353966] |
Chr12:40348437 [GRCh38]
Chr12:40742239 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.509T>A (p.Phe170Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002335978] |
Chr12:40238041 [GRCh38]
Chr12:40631843 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5103A>G (p.Pro1701=) |
single nucleotide variant |
Inborn genetic diseases [RCV002336004] |
Chr12:40321121 [GRCh38]
Chr12:40714923 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.646A>G (p.Lys216Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002361938] |
Chr12:40240557 [GRCh38]
Chr12:40634359 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2530A>G (p.Ile844Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002433157] |
Chr12:40287380 [GRCh38]
Chr12:40681182 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4186G>T (p.Ala1396Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002327744] |
Chr12:40308693 [GRCh38]
Chr12:40702495 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5187A>G (p.Pro1729=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338475] |
Chr12:40322051 [GRCh38]
Chr12:40715853 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4852T>C (p.Cys1618Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002340294] |
Chr12:40320012 [GRCh38]
Chr12:40713814 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4857A>C (p.Pro1619=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340308] |
Chr12:40320017 [GRCh38]
Chr12:40713819 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4869G>A (p.Lys1623=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340389] |
Chr12:40320029 [GRCh38]
Chr12:40713831 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1824T>C (p.Ser608=) |
single nucleotide variant |
Inborn genetic diseases [RCV002410413] |
Chr12:40274876 [GRCh38]
Chr12:40668678 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4379A>G (p.Lys1460Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002333547] |
Chr12:40310492 [GRCh38]
Chr12:40704294 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4385G>T (p.Arg1462Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002333599] |
Chr12:40310498 [GRCh38]
Chr12:40704300 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5395G>C (p.Asp1799His) |
single nucleotide variant |
Inborn genetic diseases [RCV002347206] |
Chr12:40322396 [GRCh38]
Chr12:40716198 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5398A>G (p.Ile1800Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002347216] |
Chr12:40322399 [GRCh38]
Chr12:40716201 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.539G>T (p.Gly180Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002347237] |
Chr12:40238071 [GRCh38]
Chr12:40631873 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2095T>C (p.Phe699Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002424103] |
Chr12:40278115 [GRCh38]
Chr12:40671917 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.895G>C (p.Val299Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002376229] |
Chr12:40249882 [GRCh38]
Chr12:40643684 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3176G>A (p.Cys1059Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002322687] |
Chr12:40298322 [GRCh38]
Chr12:40692124 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.271G>A (p.Val91Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002431274] |
Chr12:40232307 [GRCh38]
Chr12:40626109 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.936G>A (p.Ala312=) |
single nucleotide variant |
Inborn genetic diseases [RCV002371729] |
Chr12:40249923 [GRCh38]
Chr12:40643725 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1635G>T (p.Leu545=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401366] |
Chr12:40263880 [GRCh38]
Chr12:40657682 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3462A>G (p.Lys1154=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457257] |
Chr12:40299223 [GRCh38]
Chr12:40693025 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2084G>C (p.Cys695Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002423927] |
Chr12:40278104 [GRCh38]
Chr12:40671906 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3067C>T (p.Leu1023Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002444287] |
Chr12:40295615 [GRCh38]
Chr12:40689417 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6476A>G (p.His2159Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002361962] |
Chr12:40351633 [GRCh38]
Chr12:40745435 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6854C>T (p.Ala2285Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002362128] |
Chr12:40359270 [GRCh38]
Chr12:40753072 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6857C>T (p.Ala2286Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002362132] |
Chr12:40359273 [GRCh38]
Chr12:40753075 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.253C>T (p.Leu85=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433219] |
Chr12:40232289 [GRCh38]
Chr12:40626091 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1901G>C (p.Ser634Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002408269] |
Chr12:40274953 [GRCh38]
Chr12:40668755 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4252G>A (p.Val1418Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002329877] |
Chr12:40309168 [GRCh38]
Chr12:40702970 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4605A>T (p.Leu1535Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002342411] |
Chr12:40314040 [GRCh38]
Chr12:40707842 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4608G>C (p.Ser1536=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342423] |
Chr12:40314043 [GRCh38]
Chr12:40707845 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4608G>T (p.Ser1536=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342424] |
Chr12:40314043 [GRCh38]
Chr12:40707845 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5334C>A (p.Gly1778=) |
single nucleotide variant |
Inborn genetic diseases [RCV002346852] |
Chr12:40322335 [GRCh38]
Chr12:40716137 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1689A>G (p.Gly563=) |
single nucleotide variant |
Inborn genetic diseases [RCV002414603] |
Chr12:40274615 [GRCh38]
Chr12:40668417 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5346C>T (p.Asp1782=) |
single nucleotide variant |
Inborn genetic diseases [RCV002346914] |
Chr12:40322347 [GRCh38]
Chr12:40716149 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5357C>T (p.Ser1786Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002346990] |
Chr12:40322358 [GRCh38]
Chr12:40716160 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1703C>A (p.Ser568Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002414714] |
Chr12:40274629 [GRCh38]
Chr12:40668431 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3811A>G (p.Thr1271Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002355249] |
Chr12:40305818 [GRCh38]
Chr12:40699620 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2783A>C (p.Asn928Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002441331] |
Chr12:40293638 [GRCh38]
Chr12:40687440 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2380C>T (p.Leu794=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457892] |
Chr12:40284013 [GRCh38]
Chr12:40677815 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2787G>C (p.Leu929Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002441370] |
Chr12:40293642 [GRCh38]
Chr12:40687444 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.960T>C (p.Thr320=) |
single nucleotide variant |
Inborn genetic diseases [RCV002376461] |
Chr12:40251233 [GRCh38]
Chr12:40645035 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2723C>T (p.Ser908Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002431312] |
Chr12:40293578 [GRCh38]
Chr12:40687380 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6900G>T (p.Leu2300Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002362323] |
Chr12:40359316 [GRCh38]
Chr12:40753118 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6930G>C (p.Thr2310=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362395] |
Chr12:40359346 [GRCh38]
Chr12:40753148 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6940G>A (p.Val2314Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002362435] |
Chr12:40359356 [GRCh38]
Chr12:40753158 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1260T>G (p.Asn420Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002434827] |
Chr12:40252988 [GRCh38]
Chr12:40646790 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4518C>T (p.Asn1506=) |
single nucleotide variant |
Inborn genetic diseases [RCV002339963] |
Chr12:40310631 [GRCh38]
Chr12:40704433 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1617G>T (p.Lys539Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002400999] |
Chr12:40263862 [GRCh38]
Chr12:40657664 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4376A>G (p.Glu1459Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002333536] |
Chr12:40310489 [GRCh38]
Chr12:40704291 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2097T>C (p.Phe699=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638883]|Inborn genetic diseases [RCV002424131] |
Chr12:40278117 [GRCh38]
Chr12:40671919 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2325G>A (p.Leu775=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457603] |
Chr12:40283958 [GRCh38]
Chr12:40677760 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2108C>T (p.Ala703Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002424322] |
Chr12:40278128 [GRCh38]
Chr12:40671930 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3809T>C (p.Leu1270Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002355219] |
Chr12:40305816 [GRCh38]
Chr12:40699618 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1741T>A (p.Ser581Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002401416] |
Chr12:40274667 [GRCh38]
Chr12:40668469 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1744C>T (p.Leu582=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401456] |
Chr12:40274670 [GRCh38]
Chr12:40668472 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2319A>G (p.Lys773=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448087] |
Chr12:40283952 [GRCh38]
Chr12:40677754 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.937C>T (p.Leu313Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002371747] |
Chr12:40249924 [GRCh38]
Chr12:40643726 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1445C>G (p.Ala482Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002394442] |
Chr12:40259506 [GRCh38]
Chr12:40653308 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.685T>C (p.Leu229=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362152] |
Chr12:40240596 [GRCh38]
Chr12:40634398 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6868A>T (p.Ile2290Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002362173] |
Chr12:40359284 [GRCh38]
Chr12:40753086 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.859G>T (p.Val287Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002447963] |
Chr12:40249846 [GRCh38]
Chr12:40643648 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6874A>C (p.Asn2292His) |
single nucleotide variant |
Inborn genetic diseases [RCV002362199] |
Chr12:40359290 [GRCh38]
Chr12:40753092 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1789C>G (p.Pro597Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002404187] |
Chr12:40274715 [GRCh38]
Chr12:40668517 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4260C>T (p.Asp1420=) |
single nucleotide variant |
Inborn genetic diseases [RCV002329942] |
Chr12:40309176 [GRCh38]
Chr12:40702978 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4614T>C (p.Arg1538=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342484] |
Chr12:40314049 [GRCh38]
Chr12:40707851 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5218T>C (p.Leu1740=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344285] |
Chr12:40322082 [GRCh38]
Chr12:40715884 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5396A>G (p.Asp1799Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002347211] |
Chr12:40322397 [GRCh38]
Chr12:40716199 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3834C>T (p.Asn1278=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355419] |
Chr12:40305841 [GRCh38]
Chr12:40699643 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3873A>G (p.Leu1291=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355635] |
Chr12:40305880 [GRCh38]
Chr12:40699682 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3190G>T (p.Asp1064Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002322865] |
Chr12:40298336 [GRCh38]
Chr12:40692138 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.967A>G (p.Ile323Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002376548] |
Chr12:40251240 [GRCh38]
Chr12:40645042 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4404A>G (p.Lys1468=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333766] |
Chr12:40310517 [GRCh38]
Chr12:40704319 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5761C>T (p.Leu1921Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002359598] |
Chr12:40334970 [GRCh38]
Chr12:40728772 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1008A>G (p.Gln336=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448336] |
Chr12:40251281 [GRCh38]
Chr12:40645083 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1136T>G (p.Met379Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002326170] |
Chr12:40251499 [GRCh38]
Chr12:40645301 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7334T>C (p.Ile2445Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002380190] |
Chr12:40364994 [GRCh38]
Chr12:40758796 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.453G>A (p.Leu151=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340097] |
Chr12:40237985 [GRCh38]
Chr12:40631787 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1621G>A (p.Asp541Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002401078] |
Chr12:40263866 [GRCh38]
Chr12:40657668 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3373C>A (p.Pro1125Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002451760] |
Chr12:40299134 [GRCh38]
Chr12:40692936 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5225G>C (p.Trp1742Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638841]|Inborn genetic diseases [RCV002344298] |
Chr12:40322089 [GRCh38]
Chr12:40715891 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.522T>C (p.Asp174=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344317] |
Chr12:40238054 [GRCh38]
Chr12:40631856 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5272C>G (p.His1758Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002344412] |
Chr12:40322136 [GRCh38]
Chr12:40715938 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5275C>G (p.Pro1759Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002344417] |
Chr12:40322139 [GRCh38]
Chr12:40715941 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1198G>C (p.Glu400Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002344464] |
Chr12:40252926 [GRCh38]
Chr12:40646728 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2385C>T (p.Ala795=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003098842]|Inborn genetic diseases [RCV002457938]|not provided [RCV003326631] |
Chr12:40284018 [GRCh38]
Chr12:40677820 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2792G>A (p.Arg931Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002441440] |
Chr12:40293647 [GRCh38]
Chr12:40687449 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3850T>A (p.Phe1284Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002355485] |
Chr12:40305857 [GRCh38]
Chr12:40699659 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1002G>T (p.Glu334Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002394721] |
Chr12:40251275 [GRCh38]
Chr12:40645077 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4032G>A (p.Gly1344=) |
single nucleotide variant |
Inborn genetic diseases [RCV002359566] |
Chr12:40308539 [GRCh38]
Chr12:40702341 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2338G>A (p.Gly780Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002448246] |
Chr12:40283971 [GRCh38]
Chr12:40677773 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6960C>A (p.Gly2320=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362486] |
Chr12:40359376 [GRCh38]
Chr12:40753178 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6970T>G (p.Phe2324Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002362529] |
Chr12:40359386 [GRCh38]
Chr12:40753188 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2348A>G (p.Asp783Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002448347] |
Chr12:40283981 [GRCh38]
Chr12:40677783 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7317T>G (p.Leu2439=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380080] |
Chr12:40364977 [GRCh38]
Chr12:40758779 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2367G>A (p.Leu789=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457740] |
Chr12:40284000 [GRCh38]
Chr12:40677802 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2382G>A (p.Leu794=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457913] |
Chr12:40284015 [GRCh38]
Chr12:40677817 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2242G>A (p.Val748Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002428383] |
Chr12:40283875 [GRCh38]
Chr12:40677677 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.688C>T (p.His230Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002362270] |
Chr12:40240599 [GRCh38]
Chr12:40634401 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6895C>T (p.Pro2299Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002362288] |
Chr12:40359311 [GRCh38]
Chr12:40753113 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6913G>A (p.Glu2305Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002362357] |
Chr12:40359329 [GRCh38]
Chr12:40753131 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6930G>A (p.Thr2310=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003776325]|Inborn genetic diseases [RCV002362394] |
Chr12:40359346 [GRCh38]
Chr12:40753148 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3099T>G (p.Thr1033=) |
single nucleotide variant |
Inborn genetic diseases [RCV002325886] |
Chr12:40298245 [GRCh38]
Chr12:40692047 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6956G>T (p.Cys2319Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002362462] |
Chr12:40359372 [GRCh38]
Chr12:40753174 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.51G>A (p.Lys17=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338617] |
Chr12:40225182 [GRCh38]
Chr12:40618984 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4204T>C (p.Tyr1402His) |
single nucleotide variant |
Inborn genetic diseases [RCV002327893] |
Chr12:40309120 [GRCh38]
Chr12:40702922 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4205A>G (p.Tyr1402Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002327896] |
Chr12:40309121 [GRCh38]
Chr12:40702923 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5204G>A (p.Arg1735Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002338647] |
Chr12:40322068 [GRCh38]
Chr12:40715870 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4626A>C (p.Pro1542=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342531] |
Chr12:40314061 [GRCh38]
Chr12:40707863 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4334C>G (p.Ser1445Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002332139] |
Chr12:40310447 [GRCh38]
Chr12:40704249 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5276C>T (p.Pro1759Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002344421] |
Chr12:40322140 [GRCh38]
Chr12:40715942 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5279A>C (p.Glu1760Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002344429] |
Chr12:40322143 [GRCh38]
Chr12:40715945 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.820C>A (p.Leu274Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002412493] |
Chr12:40243663 [GRCh38]
Chr12:40637465 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5658T>G (p.Gly1886=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003103210]|Inborn genetic diseases [RCV002347299] |
Chr12:40328361 [GRCh38]
Chr12:40722163 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1641A>G (p.Leu547=) |
single nucleotide variant |
Inborn genetic diseases [RCV002394928] |
Chr12:40263886 [GRCh38]
Chr12:40657688 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3312T>C (p.Asp1104=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326333] |
Chr12:40298458 [GRCh38]
Chr12:40692260 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4848A>G (p.Glu1616=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340256] |
Chr12:40320008 [GRCh38]
Chr12:40713810 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.135C>T (p.Phe45=) |
single nucleotide variant |
Inborn genetic diseases [RCV002383454] |
Chr12:40225266 [GRCh38]
Chr12:40619068 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.119A>G (p.Glu40Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002344680] |
Chr12:40225250 [GRCh38]
Chr12:40619052 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7482C>T (p.Thr2494=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638858]|Inborn genetic diseases [RCV002391516] |
Chr12:40367663 [GRCh38]
Chr12:40761465 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5924C>T (p.Ala1975Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002355828] |
Chr12:40335133 [GRCh38]
Chr12:40728935 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2952T>G (p.Ile984Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002441892] |
Chr12:40295500 [GRCh38]
Chr12:40689302 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7354T>G (p.Cys2452Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002380263] |
Chr12:40365014 [GRCh38]
Chr12:40758816 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2804C>G (p.Ser935Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002441620] |
Chr12:40293659 [GRCh38]
Chr12:40687461 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.281G>T (p.Gly94Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002441807] |
Chr12:40232317 [GRCh38]
Chr12:40626119 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4020G>T (p.Val1340=) |
single nucleotide variant |
Inborn genetic diseases [RCV002359489] |
Chr12:40308527 [GRCh38]
Chr12:40702329 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3109T>C (p.Leu1037=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326061] |
Chr12:40298255 [GRCh38]
Chr12:40692057 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2349C>A (p.Asp783Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002448354] |
Chr12:40283982 [GRCh38]
Chr12:40677784 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7305A>G (p.Leu2435=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380018] |
Chr12:40364965 [GRCh38]
Chr12:40758767 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7323T>C (p.Thr2441=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380124] |
Chr12:40364983 [GRCh38]
Chr12:40758785 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3292G>T (p.Val1098Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002326167] |
Chr12:40298438 [GRCh38]
Chr12:40692240 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6625G>T (p.Val2209Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002364625] |
Chr12:40354347 [GRCh38]
Chr12:40748149 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6629A>C (p.Glu2210Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002364631] |
Chr12:40354351 [GRCh38]
Chr12:40748153 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6993C>T (p.Thr2331=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364688] |
Chr12:40359409 [GRCh38]
Chr12:40753211 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1172A>C (p.Glu391Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002332182] |
Chr12:40251535 [GRCh38]
Chr12:40645337 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4343T>C (p.Ile1448Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002332212] |
Chr12:40310456 [GRCh38]
Chr12:40704258 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4347C>T (p.Leu1449=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003775875]|Inborn genetic diseases [RCV002332229] |
Chr12:40310460 [GRCh38]
Chr12:40704262 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5306C>T (p.Ser1769Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002344616] |
Chr12:40322170 [GRCh38]
Chr12:40715972 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5693A>G (p.Tyr1898Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002347496] |
Chr12:40328396 [GRCh38]
Chr12:40722198 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5955C>T (p.Leu1985=) |
single nucleotide variant |
Inborn genetic diseases [RCV002356002] |
Chr12:40340300 [GRCh38]
Chr12:40734102 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2676C>A (p.Asp892Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002428845] |
Chr12:40287526 [GRCh38]
Chr12:40681328 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5789C>G (p.Pro1930Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002359739] |
Chr12:40334998 [GRCh38]
Chr12:40728800 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4250C>T (p.Ala1417Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002329865] |
Chr12:40309166 [GRCh38]
Chr12:40702968 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1372G>C (p.Val458Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002383738] |
Chr12:40257331 [GRCh38]
Chr12:40651133 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7503A>G (p.Pro2501=) |
single nucleotide variant |
Inborn genetic diseases [RCV002391632] |
Chr12:40367684 [GRCh38]
Chr12:40761486 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5947A>C (p.Arg1983=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355949] |
Chr12:40335156 [GRCh38]
Chr12:40728958 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.977A>G (p.Asn326Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002376773] |
Chr12:40251250 [GRCh38]
Chr12:40645052 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2676C>T (p.Asp892=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428846] |
Chr12:40287526 [GRCh38]
Chr12:40681328 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2677C>G (p.Leu893Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002428855] |
Chr12:40287527 [GRCh38]
Chr12:40681329 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1593T>C (p.Asn531=) |
single nucleotide variant |
Inborn genetic diseases [RCV002398493] |
Chr12:40263838 [GRCh38]
Chr12:40657640 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1560C>G (p.Ser520=) |
single nucleotide variant |
Inborn genetic diseases [RCV002405403] |
Chr12:40263805 [GRCh38]
Chr12:40657607 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.739G>A (p.Val247Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002380502] |
Chr12:40243582 [GRCh38]
Chr12:40637384 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2954C>T (p.Thr985Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002441909] |
Chr12:40295502 [GRCh38]
Chr12:40689304 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5934A>G (p.Val1978=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355892] |
Chr12:40335143 [GRCh38]
Chr12:40728945 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4409C>A (p.Thr1470Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002333787] |
Chr12:40310522 [GRCh38]
Chr12:40704324 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7374G>A (p.Met2458Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002380378] |
Chr12:40365034 [GRCh38]
Chr12:40758836 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.422T>C (p.Leu141Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002328111] |
Chr12:40235700 [GRCh38]
Chr12:40629502 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4233G>A (p.Gln1411=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328140] |
Chr12:40309149 [GRCh38]
Chr12:40702951 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.524A>G (p.Glu175Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002340935] |
Chr12:40238056 [GRCh38]
Chr12:40631858 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4349T>C (p.Val1450Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002332242] |
Chr12:40310462 [GRCh38]
Chr12:40704264 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4935C>T (p.Tyr1645=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342648] |
Chr12:40320095 [GRCh38]
Chr12:40713897 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4350T>C (p.Val1450=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332274] |
Chr12:40310463 [GRCh38]
Chr12:40704265 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4936A>G (p.Met1646Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002342657]|LRRK2-related condition [RCV003916452] |
Chr12:40320096 [GRCh38]
Chr12:40713898 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1830A>G (p.Ile610Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002412620] |
Chr12:40274882 [GRCh38]
Chr12:40668684 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5310T>C (p.Cys1770=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344658] |
Chr12:40322174 [GRCh38]
Chr12:40715976 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5312G>T (p.Arg1771Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002344664] |
Chr12:40322176 [GRCh38]
Chr12:40715978 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5313A>G (p.Arg1771=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344667] |
Chr12:40322177 [GRCh38]
Chr12:40715979 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5574C>A (p.Asp1858Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002344711] |
Chr12:40323224 [GRCh38]
Chr12:40717026 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1726G>T (p.Ala576Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002414826] |
Chr12:40274652 [GRCh38]
Chr12:40668454 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.538G>A (p.Gly180Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002347183] |
Chr12:40238070 [GRCh38]
Chr12:40631872 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5393T>C (p.Ile1798Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003776101]|Inborn genetic diseases [RCV002347199] |
Chr12:40322394 [GRCh38]
Chr12:40716196 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2198C>G (p.Ala733Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002425622] |
Chr12:40278218 [GRCh38]
Chr12:40672020 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5805G>A (p.Leu1935=) |
single nucleotide variant |
Inborn genetic diseases [RCV002359916] |
Chr12:40335014 [GRCh38]
Chr12:40728816 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2705T>A (p.Phe902Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002429038] |
Chr12:40293560 [GRCh38]
Chr12:40687362 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1565A>G (p.Glu522Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002405501] |
Chr12:40263810 [GRCh38]
Chr12:40657612 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4801A>G (p.Lys1601Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002337885] |
Chr12:40315274 [GRCh38]
Chr12:40709076 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1605A>G (p.Lys535=) |
single nucleotide variant |
Inborn genetic diseases [RCV002398766] |
Chr12:40263850 [GRCh38]
Chr12:40657652 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4902T>C (p.Phe1634=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340659] |
Chr12:40320062 [GRCh38]
Chr12:40713864 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4926A>G (p.Pro1642=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340735] |
Chr12:40320086 [GRCh38]
Chr12:40713888 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4287T>C (p.Asp1429=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330168] |
Chr12:40309203 [GRCh38]
Chr12:40703005 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.561G>C (p.Leu187=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345015] |
Chr12:40238093 [GRCh38]
Chr12:40631895 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5809G>T (p.Ala1937Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002359934] |
Chr12:40335018 [GRCh38]
Chr12:40728820 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2150G>C (p.Cys717Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002432467] |
Chr12:40278170 [GRCh38]
Chr12:40671972 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5958C>G (p.His1986Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002356008] |
Chr12:40340303 [GRCh38]
Chr12:40734105 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3238G>A (p.Val1080Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002445581] |
Chr12:40298384 [GRCh38]
Chr12:40692186 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3242A>G (p.Lys1081Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002445603] |
Chr12:40298388 [GRCh38]
Chr12:40692190 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4078T>C (p.Ser1360Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002323087] |
Chr12:40308585 [GRCh38]
Chr12:40702387 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3267C>A (p.Asn1089Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002445679] |
Chr12:40298413 [GRCh38]
Chr12:40692215 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3529A>G (p.Ile1177Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002337565] |
Chr12:40302821 [GRCh38]
Chr12:40696623 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.738T>A (p.Asn246Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002380453] |
Chr12:40243581 [GRCh38]
Chr12:40637383 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4763C>T (p.Pro1588Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002337681] |
Chr12:40315236 [GRCh38]
Chr12:40709038 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4956C>T (p.Leu1652=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342755] |
Chr12:40320116 [GRCh38]
Chr12:40713918 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1835A>G (p.Tyr612Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002412714] |
Chr12:40274887 [GRCh38]
Chr12:40668689 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5588A>T (p.Asp1863Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002344780] |
Chr12:40323238 [GRCh38]
Chr12:40717040 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5350A>G (p.Ile1784Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002346972] |
Chr12:40322351 [GRCh38]
Chr12:40716153 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5361C>T (p.Leu1787=) |
single nucleotide variant |
Inborn genetic diseases [RCV002347034] |
Chr12:40322362 [GRCh38]
Chr12:40716164 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6486C>T (p.Ser2162=) |
single nucleotide variant |
Inborn genetic diseases [RCV002356226] |
Chr12:40351643 [GRCh38]
Chr12:40745445 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6499A>T (p.Ile2167Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002356260] |
Chr12:40351656 [GRCh38]
Chr12:40745458 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4112T>C (p.Ile1371Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002323430] |
Chr12:40308619 [GRCh38]
Chr12:40702421 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6101G>A (p.Gly2034Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002360182] |
Chr12:40340446 [GRCh38]
Chr12:40734248 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.614A>G (p.Tyr205Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003120942]|Inborn genetic diseases [RCV002360415] |
Chr12:40240525 [GRCh38]
Chr12:40634327 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6153C>T (p.Asn2051=) |
single nucleotide variant |
Inborn genetic diseases [RCV002360442] |
Chr12:40346796 [GRCh38]
Chr12:40740598 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4812T>C (p.Cys1604=) |
single nucleotide variant |
Inborn genetic diseases [RCV002337974] |
Chr12:40315285 [GRCh38]
Chr12:40709087 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4299T>G (p.Pro1433=) |
single nucleotide variant |
Inborn genetic diseases [RCV002330260] |
Chr12:40309215 [GRCh38]
Chr12:40703017 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5251G>A (p.Gly1751Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002340957] |
Chr12:40322115 [GRCh38]
Chr12:40715917 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5256T>G (p.Ser1752=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340969] |
Chr12:40322120 [GRCh38]
Chr12:40715922 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.727A>T (p.Met243Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002294824] |
Chr12:40243570 [GRCh38]
Chr12:40637372 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6485G>A (p.Ser2162Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002356223] |
Chr12:40351642 [GRCh38]
Chr12:40745444 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.882T>C (p.Phe294=) |
single nucleotide variant |
Inborn genetic diseases [RCV002373780] |
Chr12:40249869 [GRCh38]
Chr12:40643671 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2987A>C (p.Asp996Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002442268] |
Chr12:40295535 [GRCh38]
Chr12:40689337 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.270A>G (p.Glu90=) |
single nucleotide variant |
Inborn genetic diseases [RCV002429068] |
Chr12:40232306 [GRCh38]
Chr12:40626108 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6093A>C (p.Thr2031=) |
single nucleotide variant |
Inborn genetic diseases [RCV002360064] |
Chr12:40340438 [GRCh38]
Chr12:40734240 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6093A>G (p.Thr2031=) |
single nucleotide variant |
Inborn genetic diseases [RCV002360065] |
Chr12:40340438 [GRCh38]
Chr12:40734240 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2166C>A (p.Ser722Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002432646] |
Chr12:40278186 [GRCh38]
Chr12:40671988 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1007A>G (p.Gln336Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002432722] |
Chr12:40251280 [GRCh38]
Chr12:40645082 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5978G>A (p.Arg1993Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002356108] |
Chr12:40340323 [GRCh38]
Chr12:40734125 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2976T>C (p.Asn992=) |
single nucleotide variant |
Inborn genetic diseases [RCV002442149] |
Chr12:40295524 [GRCh38]
Chr12:40689326 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1269A>G (p.Ser423=) |
single nucleotide variant |
Inborn genetic diseases [RCV002373719] |
Chr12:40252997 [GRCh38]
Chr12:40646799 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4095A>G (p.Gln1365=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323263] |
Chr12:40308602 [GRCh38]
Chr12:40702404 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3290T>C (p.Phe1097Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002445825] |
Chr12:40298436 [GRCh38]
Chr12:40692238 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2151T>C (p.Cys717=) |
single nucleotide variant |
Inborn genetic diseases [RCV002432486] |
Chr12:40278171 [GRCh38]
Chr12:40671973 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4792G>A (p.Val1598Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638837]|Inborn genetic diseases [RCV002337822] |
Chr12:40315265 [GRCh38]
Chr12:40709067 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7260G>A (p.Gln2420=) |
single nucleotide variant |
Inborn genetic diseases [RCV002382540] |
Chr12:40364920 [GRCh38]
Chr12:40758722 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7270G>T (p.Ala2424Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002382592] |
Chr12:40364930 [GRCh38]
Chr12:40758732 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.183T>C (p.His61=) |
single nucleotide variant |
Inborn genetic diseases [RCV002412831] |
Chr12:40225586 [GRCh38]
Chr12:40619388 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5602A>G (p.Ile1868Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002344910] |
Chr12:40323252 [GRCh38]
Chr12:40717054 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5365G>C (p.Glu1789Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002347043] |
Chr12:40322366 [GRCh38]
Chr12:40716168 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5379T>C (p.Pro1793=) |
single nucleotide variant |
Inborn genetic diseases [RCV002347094] |
Chr12:40322380 [GRCh38]
Chr12:40716182 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5691C>G (p.Ala1897=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003096841]|Inborn genetic diseases [RCV002347484] |
Chr12:40328394 [GRCh38]
Chr12:40722196 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5705A>G (p.Glu1902Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002347588] |
Chr12:40328408 [GRCh38]
Chr12:40722210 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5707G>A (p.Val1903Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002347592] |
Chr12:40328410 [GRCh38]
Chr12:40722212 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3115C>T (p.His1039Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002320429] |
Chr12:40298261 [GRCh38]
Chr12:40692063 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.311A>T (p.Asp104Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002320466] |
Chr12:40232347 [GRCh38]
Chr12:40626149 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1511C>G (p.Ala504Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002392216] |
Chr12:40259572 [GRCh38]
Chr12:40653374 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2300G>T (p.Arg767Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002446329] |
Chr12:40283933 [GRCh38]
Chr12:40677735 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.230T>G (p.Val77Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002446431] |
Chr12:40225633 [GRCh38]
Chr12:40619435 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6909G>T (p.Leu2303Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002378075] |
Chr12:40359325 [GRCh38]
Chr12:40753127 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1539G>A (p.Val513=) |
single nucleotide variant |
Inborn genetic diseases [RCV002403103] |
Chr12:40259600 [GRCh38]
Chr12:40653402 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1305A>G (p.Ile435Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002380929] |
Chr12:40257264 [GRCh38]
Chr12:40651066 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3119T>C (p.Leu1040Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002320462] |
Chr12:40298265 [GRCh38]
Chr12:40692067 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.227G>A (p.Ser76Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002446066] |
Chr12:40225630 [GRCh38]
Chr12:40619432 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1530T>C (p.His510=) |
single nucleotide variant |
Inborn genetic diseases [RCV002402973] |
Chr12:40259591 [GRCh38]
Chr12:40653393 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4645G>A (p.Asp1549Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002335050] |
Chr12:40314080 [GRCh38]
Chr12:40707882 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2172G>A (p.Met724Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002432761] |
Chr12:40278192 [GRCh38]
Chr12:40671994 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1581T>C (p.His527=) |
single nucleotide variant |
Inborn genetic diseases [RCV002405827] |
Chr12:40263826 [GRCh38]
Chr12:40657628 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6078A>G (p.Arg2026=) |
single nucleotide variant |
Inborn genetic diseases [RCV002359966] |
Chr12:40340423 [GRCh38]
Chr12:40734225 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6094T>A (p.Ser2032Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002360072] |
Chr12:40340439 [GRCh38]
Chr12:40734241 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1575A>G (p.Glu525=) |
single nucleotide variant |
Inborn genetic diseases [RCV002405700] |
Chr12:40263820 [GRCh38]
Chr12:40657622 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4742T>G (p.Val1581Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002330599] |
Chr12:40315215 [GRCh38]
Chr12:40709017 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.192G>C (p.Leu64=) |
single nucleotide variant |
Inborn genetic diseases [RCV002410888] |
Chr12:40225595 [GRCh38]
Chr12:40619397 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4980G>C (p.Leu1660Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002342904] |
Chr12:40320140 [GRCh38]
Chr12:40713942 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1845A>G (p.Thr615=) |
single nucleotide variant |
Inborn genetic diseases [RCV002412913] |
Chr12:40274897 [GRCh38]
Chr12:40668699 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5611A>G (p.Asn1871Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002344965] |
Chr12:40323261 [GRCh38]
Chr12:40717063 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5622G>A (p.Glu1874=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345039] |
Chr12:40323272 [GRCh38]
Chr12:40717074 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5623T>C (p.Leu1875=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345042] |
Chr12:40323273 [GRCh38]
Chr12:40717075 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1205T>C (p.Met402Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002345049] |
Chr12:40252933 [GRCh38]
Chr12:40646735 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3606T>C (p.Asp1202=) |
single nucleotide variant |
Inborn genetic diseases [RCV002455268] |
Chr12:40303963 [GRCh38]
Chr12:40697765 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6813G>T (p.Lys2271Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002369557] |
Chr12:40356157 [GRCh38]
Chr12:40749959 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2593T>C (p.Ser865Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002426165] |
Chr12:40287443 [GRCh38]
Chr12:40681245 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4696G>A (p.Glu1566Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003775947]|Inborn genetic diseases [RCV002335273] |
Chr12:40314131 [GRCh38]
Chr12:40707933 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4705C>T (p.Leu1569Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002335324] |
Chr12:40314140 [GRCh38]
Chr12:40707942 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.649G>A (p.Asp217Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002364118] |
Chr12:40240560 [GRCh38]
Chr12:40634362 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2513C>T (p.Thr838Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002432954] |
Chr12:40287363 [GRCh38]
Chr12:40681165 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1679A>T (p.Gln560Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002405986] |
Chr12:40274605 [GRCh38]
Chr12:40668407 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1725T>C (p.Asp575=) |
single nucleotide variant |
Inborn genetic diseases [RCV002399120] |
Chr12:40274651 [GRCh38]
Chr12:40668453 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6792G>T (p.Leu2264Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002369430] |
Chr12:40356136 [GRCh38]
Chr12:40749938 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2587A>G (p.Asn863Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002426100] |
Chr12:40287437 [GRCh38]
Chr12:40681239 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3129C>T (p.His1043=) |
single nucleotide variant |
Inborn genetic diseases [RCV002320556] |
Chr12:40298275 [GRCh38]
Chr12:40692077 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3131G>T (p.Ser1044Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002320606] |
Chr12:40298277 [GRCh38]
Chr12:40692079 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2396C>T (p.Ala799Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002459612] |
Chr12:40284029 [GRCh38]
Chr12:40677831 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4659A>G (p.Leu1553=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335093] |
Chr12:40314094 [GRCh38]
Chr12:40707896 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6898T>C (p.Leu2300=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003776321]|Inborn genetic diseases [RCV002378036] |
Chr12:40359314 [GRCh38]
Chr12:40753116 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4679A>T (p.Asn1560Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002335186] |
Chr12:40314114 [GRCh38]
Chr12:40707916 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2050A>T (p.Met684Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002421813] |
Chr12:40277996 [GRCh38]
Chr12:40671798 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5567C>T (p.Ala1856Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002352027] |
Chr12:40323217 [GRCh38]
Chr12:40717019 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6796G>A (p.Gly2266Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002369441] |
Chr12:40356140 [GRCh38]
Chr12:40749942 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2445T>A (p.Pro815=) |
single nucleotide variant |
Inborn genetic diseases [RCV002455392] |
Chr12:40284078 [GRCh38]
Chr12:40677880 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.112A>G (p.Ile38Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002320449] |
Chr12:40225243 [GRCh38]
Chr12:40619045 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2575G>A (p.Gly859Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002426038] |
Chr12:40287425 [GRCh38]
Chr12:40681227 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3121G>A (p.Asp1041Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002320505] |
Chr12:40298267 [GRCh38]
Chr12:40692069 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1512G>T (p.Ala504=) |
single nucleotide variant |
Inborn genetic diseases [RCV002392250] |
Chr12:40259573 [GRCh38]
Chr12:40653375 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2283A>G (p.Leu761=) |
single nucleotide variant |
Inborn genetic diseases [RCV002446117] |
Chr12:40283916 [GRCh38]
Chr12:40677718 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6146T>C (p.Ile2049Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002360407] |
Chr12:40346789 [GRCh38]
Chr12:40740591 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6734T>C (p.Val2245Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002377926] |
Chr12:40354456 [GRCh38]
Chr12:40748258 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.378T>A (p.Asn126Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002363911] |
Chr12:40235656 [GRCh38]
Chr12:40629458 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.481A>C (p.Met161Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002338001] |
Chr12:40238013 [GRCh38]
Chr12:40631815 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1176T>C (p.Asp392=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328566] |
Chr12:40251539 [GRCh38]
Chr12:40645341 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5630T>A (p.Phe1877Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002345091] |
Chr12:40323280 [GRCh38]
Chr12:40717082 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5639C>T (p.Ala1880Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002345111] |
Chr12:40323289 [GRCh38]
Chr12:40717091 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5643A>T (p.Pro1881=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345136] |
Chr12:40323293 [GRCh38]
Chr12:40717095 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5901T>G (p.Thr1967=) |
single nucleotide variant |
Inborn genetic diseases [RCV002355717] |
Chr12:40335110 [GRCh38]
Chr12:40728912 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7485T>G (p.Val2495=) |
single nucleotide variant |
Inborn genetic diseases [RCV002391523] |
Chr12:40367666 [GRCh38]
Chr12:40761468 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1852A>T (p.Asn618Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002413037] |
Chr12:40274904 [GRCh38]
Chr12:40668706 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.563T>C (p.Phe188Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002345122] |
Chr12:40238095 [GRCh38]
Chr12:40631897 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1853A>G (p.Asn618Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002413048] |
Chr12:40274905 [GRCh38]
Chr12:40668707 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1065A>C (p.Lys355Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002413114] |
Chr12:40251338 [GRCh38]
Chr12:40645140 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3155C>A (p.Ser1052Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002320862] |
Chr12:40298301 [GRCh38]
Chr12:40692103 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.885G>A (p.Val295=) |
single nucleotide variant |
Inborn genetic diseases [RCV002449835] |
Chr12:40249872 [GRCh38]
Chr12:40643674 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2445T>G (p.Pro815=) |
single nucleotide variant |
Inborn genetic diseases [RCV002455395] |
Chr12:40284078 [GRCh38]
Chr12:40677880 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6820A>G (p.Ile2274Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002369601] |
Chr12:40356164 [GRCh38]
Chr12:40749966 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2422T>A (p.Phe808Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002459804]|not provided [RCV003235724] |
Chr12:40284055 [GRCh38]
Chr12:40677857 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2403T>C (p.Asn801=) |
single nucleotide variant |
Inborn genetic diseases [RCV002459673] |
Chr12:40284036 [GRCh38]
Chr12:40677838 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.686T>C (p.Leu229Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002378008] |
Chr12:40240597 [GRCh38]
Chr12:40634399 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4674A>G (p.Arg1558=) |
single nucleotide variant |
Inborn genetic diseases [RCV002335170] |
Chr12:40314109 [GRCh38]
Chr12:40707911 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3843A>G (p.Leu1281=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364079] |
Chr12:40305850 [GRCh38]
Chr12:40699652 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5127C>T (p.Ile1709=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338152] |
Chr12:40321145 [GRCh38]
Chr12:40714947 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4492G>A (p.Ala1498Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002328630] |
Chr12:40310605 [GRCh38]
Chr12:40704407 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5004G>T (p.Leu1668=) |
single nucleotide variant |
Inborn genetic diseases [RCV002343082] |
Chr12:40320164 [GRCh38]
Chr12:40713966 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5005G>T (p.Val1669Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002343083] |
Chr12:40320165 [GRCh38]
Chr12:40713967 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3412A>G (p.Lys1138Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002332996] |
Chr12:40299173 [GRCh38]
Chr12:40692975 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1857G>C (p.Val619=) |
single nucleotide variant |
Inborn genetic diseases [RCV002413121] |
Chr12:40274909 [GRCh38]
Chr12:40668711 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5655A>G (p.Leu1885=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345215] |
Chr12:40323305 [GRCh38]
Chr12:40717107 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1940A>C (p.Lys647Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002413174] |
Chr12:40274992 [GRCh38]
Chr12:40668794 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1943G>C (p.Gly648Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002413220] |
Chr12:40277889 [GRCh38]
Chr12:40671691 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1948C>G (p.Gln650Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002413285] |
Chr12:40277894 [GRCh38]
Chr12:40671696 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3790A>G (p.Ile1264Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002353079] |
Chr12:40305797 [GRCh38]
Chr12:40699599 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5817G>A (p.Gly1939=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353137] |
Chr12:40335026 [GRCh38]
Chr12:40728828 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5821C>A (p.Arg1941Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638844]|Inborn genetic diseases [RCV002353165] |
Chr12:40335030 [GRCh38]
Chr12:40728832 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3208A>C (p.Ile1070Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002443377] |
Chr12:40298354 [GRCh38]
Chr12:40692156 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.941G>T (p.Ser314Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002443403] |
Chr12:40249928 [GRCh38]
Chr12:40643730 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.335T>G (p.Leu112Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002321073] |
Chr12:40232371 [GRCh38]
Chr12:40626173 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7179A>G (p.Leu2393=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378415] |
Chr12:40363552 [GRCh38]
Chr12:40757354 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4747C>G (p.Leu1583Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002335539] |
Chr12:40315220 [GRCh38]
Chr12:40709022 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1636G>T (p.Val546Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002403475] |
Chr12:40263881 [GRCh38]
Chr12:40657683 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6540A>G (p.Ser2180=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364326] |
Chr12:40351697 [GRCh38]
Chr12:40745499 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5186C>T (p.Pro1729Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002338474] |
Chr12:40322050 [GRCh38]
Chr12:40715852 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2533A>G (p.Arg845Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002433186]|LRRK2-related condition [RCV003408281] |
Chr12:40287383 [GRCh38]
Chr12:40681185 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6564A>G (p.Gly2188=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364425] |
Chr12:40351721 [GRCh38]
Chr12:40745523 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.456A>G (p.Ile152Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002342106] |
Chr12:40237988 [GRCh38]
Chr12:40631790 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4578C>T (p.Cys1526=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342171] |
Chr12:40314013 [GRCh38]
Chr12:40707815 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3696C>A (p.Ile1232=) |
single nucleotide variant |
Inborn genetic diseases [RCV002352996] |
Chr12:40304053 [GRCh38]
Chr12:40697855 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3711G>C (p.Leu1237Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002353038] |
Chr12:40304068 [GRCh38]
Chr12:40697870 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3892C>A (p.Pro1298Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002357409] |
Chr12:40305899 [GRCh38]
Chr12:40699701 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7169T>C (p.Val2390Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002378379] |
Chr12:40363542 [GRCh38]
Chr12:40757344 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2524A>C (p.Met842Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002455686] |
Chr12:40287374 [GRCh38]
Chr12:40681176 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3143C>T (p.Thr1048Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002320745] |
Chr12:40298289 [GRCh38]
Chr12:40692091 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2616T>G (p.Phe872Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002426362] |
Chr12:40287466 [GRCh38]
Chr12:40681268 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.387A>G (p.Val129=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357345] |
Chr12:40235665 [GRCh38]
Chr12:40629467 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3150T>C (p.Phe1050=) |
single nucleotide variant |
Inborn genetic diseases [RCV002320826] |
Chr12:40298296 [GRCh38]
Chr12:40692098 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4713C>T (p.His1571=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526141]|Inborn genetic diseases [RCV002335353] |
Chr12:40314148 [GRCh38]
Chr12:40707950 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4130C>T (p.Pro1377Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002333065] |
Chr12:40308637 [GRCh38]
Chr12:40702439 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4140A>G (p.Ile1380Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002333139] |
Chr12:40308647 [GRCh38]
Chr12:40702449 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4141A>C (p.Arg1381=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333149] |
Chr12:40308648 [GRCh38]
Chr12:40702450 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3643G>T (p.Ala1215Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002346622] |
Chr12:40304000 [GRCh38]
Chr12:40697802 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7186G>T (p.Val2396Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002370759] |
Chr12:40364846 [GRCh38]
Chr12:40758648 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2763A>G (p.Val921=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439523] |
Chr12:40293618 [GRCh38]
Chr12:40687420 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2766A>G (p.Leu922=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439543] |
Chr12:40293621 [GRCh38]
Chr12:40687423 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7199A>G (p.Glu2400Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002370803] |
Chr12:40364859 [GRCh38]
Chr12:40758661 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5856G>A (p.Lys1952=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353361] |
Chr12:40335065 [GRCh38]
Chr12:40728867 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5862C>T (p.Ser1954=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353419] |
Chr12:40335071 [GRCh38]
Chr12:40728873 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3465G>A (p.Val1155=) |
single nucleotide variant |
Inborn genetic diseases [RCV002460237] |
Chr12:40299226 [GRCh38]
Chr12:40693028 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.404G>T (p.Gly135Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002321276] |
Chr12:40235682 [GRCh38]
Chr12:40629484 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1055C>T (p.Ala352Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002406330]|LRRK2-related condition [RCV003933782] |
Chr12:40251328 [GRCh38]
Chr12:40645130 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4584A>G (p.Val1528=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342227] |
Chr12:40314019 [GRCh38]
Chr12:40707821 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4308C>T (p.Phe1436=) |
single nucleotide variant |
Inborn genetic diseases [RCV002331934] |
Chr12:40309224 [GRCh38]
Chr12:40703026 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1825C>T (p.Leu609Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002410425] |
Chr12:40274877 [GRCh38]
Chr12:40668679 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4605A>G (p.Leu1535=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342408] |
Chr12:40314040 [GRCh38]
Chr12:40707842 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5833T>C (p.Leu1945=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353248] |
Chr12:40335042 [GRCh38]
Chr12:40728844 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7186G>A (p.Val2396Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002370757] |
Chr12:40364846 [GRCh38]
Chr12:40758648 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5851T>C (p.Ser1951Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002353345] |
Chr12:40335060 [GRCh38]
Chr12:40728862 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3955A>G (p.Ile1319Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002357635] |
Chr12:40305962 [GRCh38]
Chr12:40699764 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3918T>C (p.Phe1306=) |
single nucleotide variant |
Inborn genetic diseases [RCV002321102] |
Chr12:40305925 [GRCh38]
Chr12:40699727 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3984G>C (p.Lys1328Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002357751] |
Chr12:40308491 [GRCh38]
Chr12:40702293 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3230A>G (p.Asp1077Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002324738] |
Chr12:40298376 [GRCh38]
Chr12:40692178 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.905A>G (p.Tyr302Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002378517] |
Chr12:40249892 [GRCh38]
Chr12:40643694 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2142G>C (p.Glu714Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002430572] |
Chr12:40278162 [GRCh38]
Chr12:40671964 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7375A>T (p.Met2459Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002298101] |
Chr12:40365035 [GRCh38]
Chr12:40758837 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7188A>C (p.Val2396=) |
single nucleotide variant |
Inborn genetic diseases [RCV002370761] |
Chr12:40364848 [GRCh38]
Chr12:40758650 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2760C>T (p.Ala920=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638897]|Inborn genetic diseases [RCV002439499] |
Chr12:40293615 [GRCh38]
Chr12:40687417 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3880A>T (p.Ile1294Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002357356] |
Chr12:40305887 [GRCh38]
Chr12:40699689 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1107C>T (p.Ala369=) |
single nucleotide variant |
Inborn genetic diseases [RCV002426426] |
Chr12:40251470 [GRCh38]
Chr12:40645272 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3156T>A (p.Ser1052=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003775058]|Inborn genetic diseases [RCV002320874] |
Chr12:40298302 [GRCh38]
Chr12:40692104 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4721A>G (p.His1574Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002335415] |
Chr12:40314156 [GRCh38]
Chr12:40707958 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7164C>G (p.Asp2388Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002378369] |
Chr12:40363537 [GRCh38]
Chr12:40757339 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1044T>C (p.Phe348=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638877]|Inborn genetic diseases [RCV002403405] |
Chr12:40251317 [GRCh38]
Chr12:40645119 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6512G>A (p.Cys2171Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002364179] |
Chr12:40351669 [GRCh38]
Chr12:40745471 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6519C>T (p.His2173=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364201] |
Chr12:40351676 [GRCh38]
Chr12:40745478 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1752T>G (p.Gly584=) |
single nucleotide variant |
Inborn genetic diseases [RCV002407530] |
Chr12:40274678 [GRCh38]
Chr12:40668480 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.998A>T (p.Asn333Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002383030] |
Chr12:40251271 [GRCh38]
Chr12:40645073 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.152C>A (p.Ala51Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002400844] |
Chr12:40225555 [GRCh38]
Chr12:40619357 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.780C>G (p.Phe260Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002409941] |
Chr12:40243623 [GRCh38]
Chr12:40637425 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4146C>A (p.Asp1382Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002333184] |
Chr12:40308653 [GRCh38]
Chr12:40702455 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3678A>G (p.Leu1226=) |
single nucleotide variant |
Inborn genetic diseases [RCV002346686] |
Chr12:40304035 [GRCh38]
Chr12:40697837 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3692A>C (p.Gln1231Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002346738]|not provided [RCV003319519] |
Chr12:40304049 [GRCh38]
Chr12:40697851 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2777C>T (p.Ser926Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638898]|Inborn genetic diseases [RCV002439672] |
Chr12:40293632 [GRCh38]
Chr12:40687434 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7227T>G (p.Ser2409=) |
single nucleotide variant |
Inborn genetic diseases [RCV002370979] |
Chr12:40364887 [GRCh38]
Chr12:40758689 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5880G>C (p.Gln1960His) |
single nucleotide variant |
Inborn genetic diseases [RCV002353536] |
Chr12:40335089 [GRCh38]
Chr12:40728891 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1400A>G (p.Asn467Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002389259] |
Chr12:40257359 [GRCh38]
Chr12:40651161 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.589A>C (p.Thr197Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003096905]|Inborn genetic diseases [RCV002353617] |
Chr12:40240500 [GRCh38]
Chr12:40634302 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2268A>G (p.Lys756=) |
single nucleotide variant |
Inborn genetic diseases [RCV002443824] |
Chr12:40283901 [GRCh38]
Chr12:40677703 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6014T>G (p.Leu2005Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002358076] |
Chr12:40340359 [GRCh38]
Chr12:40734161 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2455G>A (p.Gly819Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002430709] |
Chr12:40284088 [GRCh38]
Chr12:40677890 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6425G>A (p.Arg2142Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002361695] |
Chr12:40351582 [GRCh38]
Chr12:40745384 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6429C>A (p.Arg2143=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361703] |
Chr12:40351586 [GRCh38]
Chr12:40745388 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6601T>A (p.Cys2201Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002364569] |
Chr12:40354323 [GRCh38]
Chr12:40748125 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6981T>C (p.Ser2327=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364651] |
Chr12:40359397 [GRCh38]
Chr12:40753199 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4328C>T (p.Ser1443Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003094649]|Inborn genetic diseases [RCV002332079] |
Chr12:40310441 [GRCh38]
Chr12:40704243 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4335C>T (p.Ser1445=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332150] |
Chr12:40310448 [GRCh38]
Chr12:40704250 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4338T>G (p.Pro1446=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332169] |
Chr12:40310451 [GRCh38]
Chr12:40704253 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4341G>T (p.Val1447=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332203] |
Chr12:40310454 [GRCh38]
Chr12:40704256 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2907G>A (p.Arg969=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439774] |
Chr12:40295455 [GRCh38]
Chr12:40689257 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.399G>A (p.Val133=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357784] |
Chr12:40235677 [GRCh38]
Chr12:40629479 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6405T>C (p.Ala2135=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361596] |
Chr12:40351562 [GRCh38]
Chr12:40745364 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5047C>G (p.Pro1683Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002335695] |
Chr12:40321065 [GRCh38]
Chr12:40714867 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6414C>T (p.Val2138=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361646] |
Chr12:40351571 [GRCh38]
Chr12:40745373 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5880G>T (p.Gln1960His) |
single nucleotide variant |
Inborn genetic diseases [RCV002353537] |
Chr12:40335089 [GRCh38]
Chr12:40728891 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1098G>T (p.Val366=) |
single nucleotide variant |
Inborn genetic diseases [RCV002460036] |
Chr12:40251371 [GRCh38]
Chr12:40645173 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2251A>G (p.Lys751Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002443545] |
Chr12:40283884 [GRCh38]
Chr12:40677686 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5155A>G (p.Met1719Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002338279] |
Chr12:40321173 [GRCh38]
Chr12:40714975 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1194T>C (p.His398=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338306] |
Chr12:40252922 [GRCh38]
Chr12:40646724 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4514T>C (p.Ile1505Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002339946] |
Chr12:40310627 [GRCh38]
Chr12:40704429 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1059T>C (p.Cys353=) |
single nucleotide variant |
Inborn genetic diseases [RCV002407630] |
Chr12:40251332 [GRCh38]
Chr12:40645134 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6108A>G (p.Pro2036=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003073699] |
Chr12:40340453 [GRCh38]
Chr12:40734255 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1657-20G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002838275] |
Chr12:40274563 [GRCh38]
Chr12:40668365 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1927G>A (p.Glu643Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002906844] |
Chr12:40274979 [GRCh38]
Chr12:40668781 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3268C>A (p.Leu1090Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002838779] |
Chr12:40298414 [GRCh38]
Chr12:40692216 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2144G>T (p.Arg715Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002839795] |
Chr12:40278164 [GRCh38]
Chr12:40671966 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2166_2167delinsAG (p.Ser722_Ile723delinsArgVal) |
indel |
Autosomal dominant Parkinson disease 8 [RCV002775693] |
Chr12:40278186..40278187 [GRCh38]
Chr12:40671988..40671989 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39560669-43285298)x1 |
copy number loss |
not provided [RCV002475769] |
Chr12:39560669..43285298 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1941+15T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002615364] |
Chr12:40275008 [GRCh38]
Chr12:40668810 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2500+9C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002838381] |
Chr12:40284142 [GRCh38]
Chr12:40677944 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2459C>G (p.Pro820Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002793540] |
Chr12:40284092 [GRCh38]
Chr12:40677894 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4057C>A (p.Gln1353Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002795047] |
Chr12:40308564 [GRCh38]
Chr12:40702366 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7390+20A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003014636] |
Chr12:40365070 [GRCh38]
Chr12:40758872 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5702AAG[1] (p.Glu1902del) |
microsatellite |
Autosomal dominant Parkinson disease 8 [RCV002685883] |
Chr12:40328403..40328405 [GRCh38]
Chr12:40722205..40722207 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3959+9A>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002996100] |
Chr12:40305975 [GRCh38]
Chr12:40699777 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3892C>G (p.Pro1298Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002838027] |
Chr12:40305899 [GRCh38]
Chr12:40699701 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.151+20C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002755725] |
Chr12:40225302 [GRCh38]
Chr12:40619104 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3977T>G (p.Leu1326Ter) |
single nucleotide variant |
not provided [RCV002511728] |
Chr12:40308484 [GRCh38]
Chr12:40702286 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5615A>G (p.Asn1872Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003080839] |
Chr12:40323265 [GRCh38]
Chr12:40717067 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5870G>A (p.Arg1957His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002696328] |
Chr12:40335079 [GRCh38]
Chr12:40728881 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2405G>A (p.Ser802Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002622728] |
Chr12:40284038 [GRCh38]
Chr12:40677840 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4827+9C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003055555] |
Chr12:40315309 [GRCh38]
Chr12:40709111 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4373A>C (p.Asp1458Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002593434] |
Chr12:40310486 [GRCh38]
Chr12:40704288 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.959-19T>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002740185] |
Chr12:40251213 [GRCh38]
Chr12:40645015 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4855C>T (p.Pro1619Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002762695] |
Chr12:40320015 [GRCh38]
Chr12:40713817 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3568G>A (p.Glu1190Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002975815]|Inborn genetic diseases [RCV003170749] |
Chr12:40302860 [GRCh38]
Chr12:40696662 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7029-16T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002621142] |
Chr12:40363386 [GRCh38]
Chr12:40757188 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4739-4A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002619449] |
Chr12:40315208 [GRCh38]
Chr12:40709010 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6878T>C (p.Ile2293Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002783613] |
Chr12:40359294 [GRCh38]
Chr12:40753096 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.347+20A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003035900] |
Chr12:40232403 [GRCh38]
Chr12:40626205 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6427C>T (p.Arg2143Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002705363] |
Chr12:40351584 [GRCh38]
Chr12:40745386 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3371C>T (p.Ser1124Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002923784] |
Chr12:40299132 [GRCh38]
Chr12:40692934 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.71A>G (p.Asn24Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002662397] |
Chr12:40225202 [GRCh38]
Chr12:40619004 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.182A>G (p.His61Arg) |
single nucleotide variant |
not provided [RCV002509991] |
Chr12:40225585 [GRCh38]
Chr12:40619387 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4802A>G (p.Lys1601Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002760904] |
Chr12:40315275 [GRCh38]
Chr12:40709077 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6317T>C (p.Met2106Thr) |
single nucleotide variant |
not provided [RCV002509997] |
Chr12:40348445 [GRCh38]
Chr12:40742247 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6212G>A (p.Gly2071Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002998919] |
Chr12:40346855 [GRCh38]
Chr12:40740657 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2689+19_2689+20del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV002570015] |
Chr12:40287551..40287552 [GRCh38]
Chr12:40681353..40681354 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3591-14G>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002846169] |
Chr12:40303934 [GRCh38]
Chr12:40697736 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1181A>T (p.His394Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002848333] |
Chr12:40251544 [GRCh38]
Chr12:40645346 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3686A>G (p.His1229Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002927314]|Inborn genetic diseases [RCV003382967] |
Chr12:40304043 [GRCh38]
Chr12:40697845 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1607A>T (p.Gln536Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003021602] |
Chr12:40263852 [GRCh38]
Chr12:40657654 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1339G>A (p.Glu447Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002923165] |
Chr12:40257298 [GRCh38]
Chr12:40651100 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3777+9A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002736655] |
Chr12:40304143 [GRCh38]
Chr12:40697945 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5699G>A (p.Gly1900Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002572889] |
Chr12:40328402 [GRCh38]
Chr12:40722204 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.651T>G (p.Asp217Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002668066] |
Chr12:40240562 [GRCh38]
Chr12:40634364 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.959-13A>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002576138] |
Chr12:40251219 [GRCh38]
Chr12:40645021 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3943G>T (p.Ala1315Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003057407] |
Chr12:40305950 [GRCh38]
Chr12:40699752 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5381G>T (p.Gly1794Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003056067] |
Chr12:40322382 [GRCh38]
Chr12:40716184 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3778-6A>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002851577] |
Chr12:40305779 [GRCh38]
Chr12:40699581 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3778-10dup |
duplication |
Autosomal dominant Parkinson disease 8 [RCV002957607] |
Chr12:40305767..40305768 [GRCh38]
Chr12:40699569..40699570 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.3737G>A (p.Arg1246Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003040381] |
Chr12:40304094 [GRCh38]
Chr12:40697896 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4777A>G (p.Ser1593Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003082404] |
Chr12:40315250 [GRCh38]
Chr12:40709052 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1135A>G (p.Met379Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002914896] |
Chr12:40251498 [GRCh38]
Chr12:40645300 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6655A>G (p.Thr2219Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002875278] |
Chr12:40354377 [GRCh38]
Chr12:40748179 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6893C>G (p.Thr2298Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002919312] |
Chr12:40359309 [GRCh38]
Chr12:40753111 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1078C>T (p.His360Tyr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002625058] |
Chr12:40251351 [GRCh38]
Chr12:40645153 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4193G>T (p.Arg1398Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003082447] |
Chr12:40309109 [GRCh38]
Chr12:40702911 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6109+14T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002917667] |
Chr12:40340468 [GRCh38]
Chr12:40734270 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1306C>T (p.Leu436=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002954061] |
Chr12:40257265 [GRCh38]
Chr12:40651067 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3496+18G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002982844] |
Chr12:40299275 [GRCh38]
Chr12:40693077 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6312G>T (p.Trp2104Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002813627] |
Chr12:40348440 [GRCh38]
Chr12:40742242 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5240A>G (p.Tyr1747Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002651276]|Inborn genetic diseases [RCV003358116] |
Chr12:40322104 [GRCh38]
Chr12:40715906 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.388A>C (p.Asn130His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002899912] |
Chr12:40235666 [GRCh38]
Chr12:40629468 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1503G>C (p.Gln501His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002938134]|Inborn genetic diseases [RCV003170601] |
Chr12:40259564 [GRCh38]
Chr12:40653366 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.996_997del (p.Lys332_Asn333insTer) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV002899914] |
Chr12:40251268..40251269 [GRCh38]
Chr12:40645070..40645071 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6109+6del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV002629894] |
Chr12:40340460 [GRCh38]
Chr12:40734262 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3936A>T (p.Gly1312=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002834243] |
Chr12:40305943 [GRCh38]
Chr12:40699745 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1101+3A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002895274] |
Chr12:40251377 [GRCh38]
Chr12:40645179 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6382-20T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002856733] |
Chr12:40351519 [GRCh38]
Chr12:40745321 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.4827+5G>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002962865] |
Chr12:40315305 [GRCh38]
Chr12:40709107 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2284C>G (p.Leu762Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003027424] |
Chr12:40283917 [GRCh38]
Chr12:40677719 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7182-8G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003046477] |
Chr12:40364834 [GRCh38]
Chr12:40758636 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2373A>G (p.Leu791=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002599169]|Inborn genetic diseases [RCV003358101] |
Chr12:40284006 [GRCh38]
Chr12:40677808 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3138A>T (p.Lys1046Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003029118] |
Chr12:40298284 [GRCh38]
Chr12:40692086 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.22G>A (p.Gly8Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002598793] |
Chr12:40225153 [GRCh38]
Chr12:40618955 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.438T>C (p.Gly146=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002791976] |
Chr12:40237970 [GRCh38]
Chr12:40631772 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3244T>C (p.Cys1082Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002938454] |
Chr12:40298390 [GRCh38]
Chr12:40692192 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4383A>G (p.Gln1461=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003044919] |
Chr12:40310496 [GRCh38]
Chr12:40704298 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6463A>T (p.Met2155Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003088225] |
Chr12:40351620 [GRCh38]
Chr12:40745422 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6985G>T (p.Asp2329Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002835704] |
Chr12:40359401 [GRCh38]
Chr12:40753203 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5391G>T (p.Glu1797Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002898079] |
Chr12:40322392 [GRCh38]
Chr12:40716194 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.446C>G (p.Thr149Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002600915]|LRRK2-related condition [RCV003896254] |
Chr12:40237978 [GRCh38]
Chr12:40631780 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5318-4G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002937612] |
Chr12:40322315 [GRCh38]
Chr12:40716117 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7029-10T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002937658] |
Chr12:40363392 [GRCh38]
Chr12:40757194 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5882A>G (p.Gln1961Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003091442] |
Chr12:40335091 [GRCh38]
Chr12:40728893 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1289T>C (p.Val430Ala) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003091889] |
Chr12:40257248 [GRCh38]
Chr12:40651050 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4535A>C (p.Lys1512Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002855258] |
Chr12:40310648 [GRCh38]
Chr12:40704450 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7029-16T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003091547] |
Chr12:40363386 [GRCh38]
Chr12:40757188 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1845A>T (p.Thr615=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003031752] |
Chr12:40274897 [GRCh38]
Chr12:40668699 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3906G>T (p.Leu1302=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003048590] |
Chr12:40305913 [GRCh38]
Chr12:40699715 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1493T>C (p.Leu498Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002937529] |
Chr12:40259554 [GRCh38]
Chr12:40653356 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3016A>G (p.Ile1006Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002922626] |
Chr12:40295564 [GRCh38]
Chr12:40689366 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.707-15T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002634237] |
Chr12:40243535 [GRCh38]
Chr12:40637337 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1289-3C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003069283] |
Chr12:40257245 [GRCh38]
Chr12:40651047 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5758-10A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003070768] |
Chr12:40334957 [GRCh38]
Chr12:40728759 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1289-13T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003072053] |
Chr12:40257235 [GRCh38]
Chr12:40651037 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.6557C>T (p.Thr2186Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003073200] |
Chr12:40351714 [GRCh38]
Chr12:40745516 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4739-5T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003071255] |
Chr12:40315207 [GRCh38]
Chr12:40709009 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2577C>A (p.Gly859=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002721617] |
Chr12:40287427 [GRCh38]
Chr12:40681229 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5758-11G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002721700] |
Chr12:40334956 [GRCh38]
Chr12:40728758 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4669G>A (p.Val1557Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002609248] |
Chr12:40314104 [GRCh38]
Chr12:40707906 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.94A>T (p.Ile32Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003049986] |
Chr12:40225225 [GRCh38]
Chr12:40619027 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5676A>G (p.Ser1892=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002609379] |
Chr12:40328379 [GRCh38]
Chr12:40722181 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.17G>C (p.Cys6Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002944179] |
Chr12:40225148 [GRCh38]
Chr12:40618950 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2519C>T (p.Ala840Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003070023] |
Chr12:40287369 [GRCh38]
Chr12:40681171 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2774G>A (p.Cys925Tyr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002634176] |
Chr12:40293629 [GRCh38]
Chr12:40687431 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4722C>A (p.His1574Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002589849] |
Chr12:40314157 [GRCh38]
Chr12:40707959 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6919A>C (p.Thr2307Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003068982] |
Chr12:40359335 [GRCh38]
Chr12:40753137 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1275C>G (p.Leu425=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219911] |
Chr12:40253003 [GRCh38]
Chr12:40646805 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.153C>G (p.Ala51=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177790] |
Chr12:40225556 [GRCh38]
Chr12:40619358 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2967T>G (p.Leu989=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177791] |
Chr12:40295515 [GRCh38]
Chr12:40689317 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5669T>C (p.Phe1890Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003177792] |
Chr12:40328372 [GRCh38]
Chr12:40722174 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5100T>C (p.Phe1700=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177805] |
Chr12:40321118 [GRCh38]
Chr12:40714920 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.826A>G (p.Arg276Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003177811] |
Chr12:40243669 [GRCh38]
Chr12:40637471 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.864A>G (p.Leu288=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177817] |
Chr12:40249851 [GRCh38]
Chr12:40643653 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2388G>A (p.Leu796=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177824] |
Chr12:40284021 [GRCh38]
Chr12:40677823 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1900A>G (p.Ser634Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003165143] |
Chr12:40274952 [GRCh38]
Chr12:40668754 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2170A>G (p.Met724Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003165158] |
Chr12:40278190 [GRCh38]
Chr12:40671992 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1031A>G (p.Glu344Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003165161] |
Chr12:40251304 [GRCh38]
Chr12:40645106 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1385G>T (p.Gly462Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003165163] |
Chr12:40257344 [GRCh38]
Chr12:40651146 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7467A>G (p.Ile2489Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003165166] |
Chr12:40367648 [GRCh38]
Chr12:40761450 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7504C>T (p.His2502Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003165180] |
Chr12:40367685 [GRCh38]
Chr12:40761487 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4485T>C (p.Asp1495=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177783] |
Chr12:40310598 [GRCh38]
Chr12:40704400 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2115T>A (p.Asp705Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003177797] |
Chr12:40278135 [GRCh38]
Chr12:40671937 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5256T>A (p.Ser1752=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177803] |
Chr12:40322120 [GRCh38]
Chr12:40715922 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4474G>A (p.Glu1492Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003177807] |
Chr12:40310587 [GRCh38]
Chr12:40704389 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7372A>G (p.Met2458Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003177810] |
Chr12:40365032 [GRCh38]
Chr12:40758834 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3753T>A (p.His1251Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003177816] |
Chr12:40304110 [GRCh38]
Chr12:40697912 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7149C>T (p.Leu2383=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177822] |
Chr12:40363522 [GRCh38]
Chr12:40757324 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.547G>T (p.Ala183Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003182509] |
Chr12:40238079 [GRCh38]
Chr12:40631881 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2689+20A>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002971986] |
Chr12:40287559 [GRCh38]
Chr12:40681361 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1288+17G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002775561] |
Chr12:40253033 [GRCh38]
Chr12:40646835 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5690C>G (p.Ala1897Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003032680] |
Chr12:40328393 [GRCh38]
Chr12:40722195 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6764A>T (p.Lys2255Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002613506] |
Chr12:40354486 [GRCh38]
Chr12:40748288 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.959-61G>T |
single nucleotide variant |
not provided [RCV002511460] |
Chr12:40251171 [GRCh38]
Chr12:40644973 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5966T>G (p.Met1989Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002825351] |
Chr12:40340311 [GRCh38]
Chr12:40734113 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.838+10T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002953687] |
Chr12:40243691 [GRCh38]
Chr12:40637493 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.213T>A (p.Tyr71Ter) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002975905] |
Chr12:40225616 [GRCh38]
Chr12:40619418 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6770+1G>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003079491] |
Chr12:40354493 [GRCh38]
Chr12:40748295 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2070+4C>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002870923] |
Chr12:40278020 [GRCh38]
Chr12:40671822 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5578A>G (p.Ile1860Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002788606] |
Chr12:40323228 [GRCh38]
Chr12:40717030 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6621T>C (p.Leu2207=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002700951] |
Chr12:40354343 [GRCh38]
Chr12:40748145 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6584C>T (p.Ala2195Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002572387] |
Chr12:40354306 [GRCh38]
Chr12:40748108 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3800T>C (p.Leu1267Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003022824]|Inborn genetic diseases [RCV003170877] |
Chr12:40305807 [GRCh38]
Chr12:40699609 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6028G>A (p.Ala2010Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003058371] |
Chr12:40340373 [GRCh38]
Chr12:40734175 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5820T>C (p.Ile1940=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003056431] |
Chr12:40335029 [GRCh38]
Chr12:40728831 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.563T>A (p.Phe188Tyr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003056686] |
Chr12:40238095 [GRCh38]
Chr12:40631897 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4001G>A (p.Arg1334Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002900020] |
Chr12:40308508 [GRCh38]
Chr12:40702310 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2070+3A>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002647805] |
Chr12:40278019 [GRCh38]
Chr12:40671821 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4607C>T (p.Ser1536Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002632128] |
Chr12:40314042 [GRCh38]
Chr12:40707844 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.706+10A>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002628658] |
Chr12:40240627 [GRCh38]
Chr12:40634429 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2583T>C (p.Asp861=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003069253]|Inborn genetic diseases [RCV003294463] |
Chr12:40287433 [GRCh38]
Chr12:40681235 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3777+13T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV002589490] |
Chr12:40304147 [GRCh38]
Chr12:40697949 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3701T>C (p.Ile1234Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003050964]|Inborn genetic diseases [RCV003170989] |
Chr12:40304058 [GRCh38]
Chr12:40697860 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5382G>T (p.Gly1794=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278454] |
Chr12:40322383 [GRCh38]
Chr12:40716185 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6673C>T (p.Leu2225=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278458] |
Chr12:40354395 [GRCh38]
Chr12:40748197 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5711C>T (p.Ala1904Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003278459] |
Chr12:40328414 [GRCh38]
Chr12:40722216 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6422C>G (p.Thr2141Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003278460] |
Chr12:40351579 [GRCh38]
Chr12:40745381 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5205A>T (p.Arg1735=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278478] |
Chr12:40322069 [GRCh38]
Chr12:40715871 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5698G>A (p.Gly1900Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003278480] |
Chr12:40328401 [GRCh38]
Chr12:40722203 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2431G>C (p.Gly811Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003278481] |
Chr12:40284064 [GRCh38]
Chr12:40677866 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2396C>G (p.Ala799Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003278482] |
Chr12:40284029 [GRCh38]
Chr12:40677831 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1564G>A (p.Glu522Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003278483] |
Chr12:40263809 [GRCh38]
Chr12:40657611 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1482T>C (p.His494=) |
single nucleotide variant |
Inborn genetic diseases [RCV003278484] |
Chr12:40259543 [GRCh38]
Chr12:40653345 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2081T>C (p.Leu694Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003219838] |
Chr12:40278101 [GRCh38]
Chr12:40671903 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6107C>T (p.Pro2036Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003219848] |
Chr12:40340452 [GRCh38]
Chr12:40734254 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.915T>C (p.Asn305=) |
single nucleotide variant |
Inborn genetic diseases [RCV003220012] |
Chr12:40249902 [GRCh38]
Chr12:40643704 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1469T>C (p.Val490Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003220108] |
Chr12:40259530 [GRCh38]
Chr12:40653332 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7265A>G (p.Asn2422Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003220121] |
Chr12:40364925 [GRCh38]
Chr12:40758727 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2538T>C (p.Tyr846=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182515] |
Chr12:40287388 [GRCh38]
Chr12:40681190 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6933A>G (p.Glu2311=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182524] |
Chr12:40359349 [GRCh38]
Chr12:40753151 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3752A>G (p.His1251Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003182525] |
Chr12:40304109 [GRCh38]
Chr12:40697911 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2988T>C (p.Asp996=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182526] |
Chr12:40295536 [GRCh38]
Chr12:40689338 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4096A>G (p.Ser1366Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003182527] |
Chr12:40308603 [GRCh38]
Chr12:40702405 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.362T>A (p.Met121Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003182528] |
Chr12:40235640 [GRCh38]
Chr12:40629442 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.643T>G (p.Phe215Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003182529] |
Chr12:40240554 [GRCh38]
Chr12:40634356 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1598T>A (p.Val533Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003182530] |
Chr12:40263843 [GRCh38]
Chr12:40657645 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.383G>A (p.Ser128Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003182532] |
Chr12:40235661 [GRCh38]
Chr12:40629463 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4064T>G (p.Met1355Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003182533] |
Chr12:40308571 [GRCh38]
Chr12:40702373 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4282G>C (p.Val1428Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003182534] |
Chr12:40309198 [GRCh38]
Chr12:40703000 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5917A>G (p.Arg1973Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003182535] |
Chr12:40335126 [GRCh38]
Chr12:40728928 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3603A>G (p.Leu1201=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182536] |
Chr12:40303960 [GRCh38]
Chr12:40697762 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6355C>T (p.Pro2119Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003182537] |
Chr12:40348483 [GRCh38]
Chr12:40742285 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1534A>C (p.Ile512Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003182538] |
Chr12:40259595 [GRCh38]
Chr12:40653397 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.912G>A (p.Glu304=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182539] |
Chr12:40249899 [GRCh38]
Chr12:40643701 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3005A>G (p.Gln1002Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003182540] |
Chr12:40295553 [GRCh38]
Chr12:40689355 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5988A>G (p.Lys1996=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182541] |
Chr12:40340333 [GRCh38]
Chr12:40734135 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1881G>A (p.Leu627=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182542] |
Chr12:40274933 [GRCh38]
Chr12:40668735 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6907T>C (p.Leu2303=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182543] |
Chr12:40359323 [GRCh38]
Chr12:40753125 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3217T>C (p.Ser1073Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003182544] |
Chr12:40298363 [GRCh38]
Chr12:40692165 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2392G>C (p.Val798Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003182545] |
Chr12:40284025 [GRCh38]
Chr12:40677827 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5424G>A (p.Leu1808=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182582] |
Chr12:40322425 [GRCh38]
Chr12:40716227 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3683G>A (p.Ser1228Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003182586] |
Chr12:40304040 [GRCh38]
Chr12:40697842 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.782C>T (p.Pro261Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003182587] |
Chr12:40243625 [GRCh38]
Chr12:40637427 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7307T>C (p.Leu2436Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003182588] |
Chr12:40364967 [GRCh38]
Chr12:40758769 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4561C>A (p.Gln1521Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003165157] |
Chr12:40313996 [GRCh38]
Chr12:40707798 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6256T>A (p.Leu2086Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003165164] |
Chr12:40346899 [GRCh38]
Chr12:40740701 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2550T>C (p.Ser850=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219796] |
Chr12:40287400 [GRCh38]
Chr12:40681202 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4600A>G (p.Ile1534Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003219813] |
Chr12:40314035 [GRCh38]
Chr12:40707837 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4154A>C (p.Lys1385Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003177800] |
Chr12:40308661 [GRCh38]
Chr12:40702463 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6809G>A (p.Gly2270Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003176364] |
Chr12:40356153 [GRCh38]
Chr12:40749955 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3337A>G (p.Ile1113Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003205725] |
Chr12:40298483 [GRCh38]
Chr12:40692285 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1153C>T (p.His385Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003205784] |
Chr12:40251516 [GRCh38]
Chr12:40645318 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4519G>A (p.Glu1507Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638921]|Inborn genetic diseases [RCV003205796] |
Chr12:40310632 [GRCh38]
Chr12:40704434 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2595T>C (p.Ser865=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205822] |
Chr12:40287445 [GRCh38]
Chr12:40681247 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4604T>C (p.Leu1535Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003205845] |
Chr12:40314039 [GRCh38]
Chr12:40707841 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1207C>T (p.Leu403Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003205860] |
Chr12:40252935 [GRCh38]
Chr12:40646737 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.799C>G (p.Gln267Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003205900] |
Chr12:40243642 [GRCh38]
Chr12:40637444 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3648C>G (p.His1216Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003205971] |
Chr12:40304005 [GRCh38]
Chr12:40697807 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7383A>G (p.Ala2461=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205985] |
Chr12:40365043 [GRCh38]
Chr12:40758845 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1840A>G (p.Ile614Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003177782] |
Chr12:40274892 [GRCh38]
Chr12:40668694 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3235A>G (p.Thr1079Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003177789] |
Chr12:40298381 [GRCh38]
Chr12:40692183 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3020G>A (p.Ser1007Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003177799] |
Chr12:40295568 [GRCh38]
Chr12:40689370 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2755G>C (p.Asp919His) |
single nucleotide variant |
Inborn genetic diseases [RCV003165137] |
Chr12:40293610 [GRCh38]
Chr12:40687412 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2250G>A (p.Glu750=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165149] |
Chr12:40283883 [GRCh38]
Chr12:40677685 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7325G>A (p.Arg2442His) |
single nucleotide variant |
Inborn genetic diseases [RCV003165168] |
Chr12:40364985 [GRCh38]
Chr12:40758787 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6191A>G (p.Tyr2064Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003165170] |
Chr12:40346834 [GRCh38]
Chr12:40740636 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1912T>C (p.Phe638Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003165179] |
Chr12:40274964 [GRCh38]
Chr12:40668766 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3978A>G (p.Leu1326=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205979] |
Chr12:40308485 [GRCh38]
Chr12:40702287 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3862A>G (p.Met1288Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003205872] |
Chr12:40305869 [GRCh38]
Chr12:40699671 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.724C>T (p.Leu242Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638922]|Inborn genetic diseases [RCV003205890] |
Chr12:40243567 [GRCh38]
Chr12:40637369 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2188C>T (p.Leu730=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205937] |
Chr12:40278208 [GRCh38]
Chr12:40672010 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7308C>G (p.Leu2436=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205994] |
Chr12:40364968 [GRCh38]
Chr12:40758770 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1653C>T (p.Asn551=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205999] |
Chr12:40263898 [GRCh38]
Chr12:40657700 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4381C>A (p.Gln1461Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003205926] |
Chr12:40310494 [GRCh38]
Chr12:40704296 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2580C>T (p.Ser860=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205908] |
Chr12:40287430 [GRCh38]
Chr12:40681232 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2429T>C (p.Ile810Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003206042] |
Chr12:40284062 [GRCh38]
Chr12:40677864 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.735C>T (p.Gly245=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165138] |
Chr12:40243578 [GRCh38]
Chr12:40637380 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6534G>C (p.Gln2178His) |
single nucleotide variant |
Inborn genetic diseases [RCV003165146] |
Chr12:40351691 [GRCh38]
Chr12:40745493 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.569G>A (p.Arg190Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003165150] |
Chr12:40238101 [GRCh38]
Chr12:40631903 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7363G>T (p.Val2455Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003165155] |
Chr12:40365023 [GRCh38]
Chr12:40758825 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1267T>C (p.Ser423Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003165172] |
Chr12:40252995 [GRCh38]
Chr12:40646797 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7007T>C (p.Ile2336Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003165177] |
Chr12:40359423 [GRCh38]
Chr12:40753225 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6465G>T (p.Met2155Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003165178] |
Chr12:40351622 [GRCh38]
Chr12:40745424 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4689G>T (p.Gln1563His) |
single nucleotide variant |
Inborn genetic diseases [RCV003182583] |
Chr12:40314124 [GRCh38]
Chr12:40707926 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1998G>T (p.Leu666=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182531] |
Chr12:40277944 [GRCh38]
Chr12:40671746 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3698G>C (p.Ser1233Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003182564] |
Chr12:40304055 [GRCh38]
Chr12:40697857 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3254T>C (p.Leu1085Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003182581] |
Chr12:40298400 [GRCh38]
Chr12:40692202 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4275G>T (p.Gln1425His) |
single nucleotide variant |
Inborn genetic diseases [RCV003182584] |
Chr12:40309191 [GRCh38]
Chr12:40702993 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2346T>C (p.Gly782=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182585] |
Chr12:40283979 [GRCh38]
Chr12:40677781 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7248C>T (p.Thr2416=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177801] |
Chr12:40364908 [GRCh38]
Chr12:40758710 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2042C>G (p.Ser681Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003177785] |
Chr12:40277988 [GRCh38]
Chr12:40671790 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1061A>G (p.Tyr354Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003177787] |
Chr12:40251334 [GRCh38]
Chr12:40645136 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3952A>G (p.Ile1318Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003177796] |
Chr12:40305959 [GRCh38]
Chr12:40699761 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3736A>C (p.Arg1246=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177804] |
Chr12:40304093 [GRCh38]
Chr12:40697895 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1510G>A (p.Ala504Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003177806] |
Chr12:40259571 [GRCh38]
Chr12:40653373 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2890C>A (p.Leu964Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003177809] |
Chr12:40295438 [GRCh38]
Chr12:40689240 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3817C>G (p.Leu1273Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003177815] |
Chr12:40305824 [GRCh38]
Chr12:40699626 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2824C>T (p.His942Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003177818] |
Chr12:40294860 [GRCh38]
Chr12:40688662 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5794T>C (p.Leu1932=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177820] |
Chr12:40335003 [GRCh38]
Chr12:40728805 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7249C>T (p.Leu2417Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003177823] |
Chr12:40364909 [GRCh38]
Chr12:40758711 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6620T>A (p.Leu2207His) |
single nucleotide variant |
Inborn genetic diseases [RCV003177826] |
Chr12:40354342 [GRCh38]
Chr12:40748144 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3044A>G (p.Lys1015Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003219872] |
Chr12:40295592 [GRCh38]
Chr12:40689394 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3484A>G (p.Met1162Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003219882] |
Chr12:40299245 [GRCh38]
Chr12:40693047 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3075C>T (p.Ser1025=) |
single nucleotide variant |
Inborn genetic diseases [RCV003220066] |
Chr12:40295623 [GRCh38]
Chr12:40689425 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3147A>T (p.Ser1049=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165144] |
Chr12:40298293 [GRCh38]
Chr12:40692095 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6761C>G (p.Ser2254Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003165152] |
Chr12:40354483 [GRCh38]
Chr12:40748285 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2979A>G (p.Glu993=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165153] |
Chr12:40295527 [GRCh38]
Chr12:40689329 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5439A>C (p.Leu1813Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003165156] |
Chr12:40322440 [GRCh38]
Chr12:40716242 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2957C>T (p.Ser986Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003165160] |
Chr12:40295505 [GRCh38]
Chr12:40689307 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4587A>C (p.Glu1529Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003165167] |
Chr12:40314022 [GRCh38]
Chr12:40707824 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1334T>C (p.Val445Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003165174] |
Chr12:40257293 [GRCh38]
Chr12:40651095 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4927A>G (p.Lys1643Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003177786] |
Chr12:40320087 [GRCh38]
Chr12:40713889 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1098G>A (p.Val366=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177798] |
Chr12:40251371 [GRCh38]
Chr12:40645173 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3922T>G (p.Phe1308Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003177813] |
Chr12:40305929 [GRCh38]
Chr12:40699731 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5914C>T (p.His1972Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003177821] |
Chr12:40335123 [GRCh38]
Chr12:40728925 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3460A>C (p.Lys1154Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003177825] |
Chr12:40299221 [GRCh38]
Chr12:40693023 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3413A>G (p.Lys1138Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003182575] |
Chr12:40299174 [GRCh38]
Chr12:40692976 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1472T>C (p.Met491Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003182576] |
Chr12:40259533 [GRCh38]
Chr12:40653335 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3375C>G (p.Pro1125=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182577] |
Chr12:40299136 [GRCh38]
Chr12:40692938 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2335A>G (p.Ile779Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003182578] |
Chr12:40283968 [GRCh38]
Chr12:40677770 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6858T>C (p.Ala2286=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182580] |
Chr12:40359274 [GRCh38]
Chr12:40753076 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7180A>C (p.Arg2394=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165140] |
Chr12:40363553 [GRCh38]
Chr12:40757355 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1230A>T (p.Ser410=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165145] |
Chr12:40252958 [GRCh38]
Chr12:40646760 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1718T>G (p.Phe573Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003165147] |
Chr12:40274644 [GRCh38]
Chr12:40668446 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1364C>T (p.Ser455Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003165175] |
Chr12:40257323 [GRCh38]
Chr12:40651125 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3965T>A (p.Leu1322His) |
single nucleotide variant |
Inborn genetic diseases [RCV003165176] |
Chr12:40308472 [GRCh38]
Chr12:40702274 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.567G>A (p.Glu189=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300949] |
Chr12:40238099 [GRCh38]
Chr12:40631901 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2256G>A (p.Glu752=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300950] |
Chr12:40283889 [GRCh38]
Chr12:40677691 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3675C>G (p.Leu1225=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300955] |
Chr12:40304032 [GRCh38]
Chr12:40697834 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1454C>A (p.Pro485His) |
single nucleotide variant |
Inborn genetic diseases [RCV003300963] |
Chr12:40259515 [GRCh38]
Chr12:40653317 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7455G>A (p.Lys2485=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300965] |
Chr12:40367070 [GRCh38]
Chr12:40760872 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.906C>T (p.Tyr302=) |
single nucleotide variant |
Inborn genetic diseases [RCV003300968] |
Chr12:40249893 [GRCh38]
Chr12:40643695 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1919A>T (p.Asp640Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003205694] |
Chr12:40274971 [GRCh38]
Chr12:40668773 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1534A>G (p.Ile512Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003165139] |
Chr12:40259595 [GRCh38]
Chr12:40653397 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4620T>C (p.Asn1540=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165142] |
Chr12:40314055 [GRCh38]
Chr12:40707857 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2859A>G (p.Leu953=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165173] |
Chr12:40294895 [GRCh38]
Chr12:40688697 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.696A>G (p.Leu232=) |
single nucleotide variant |
Inborn genetic diseases [RCV003176353] |
Chr12:40240607 [GRCh38]
Chr12:40634409 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2772T>G (p.Arg924=) |
single nucleotide variant |
Inborn genetic diseases [RCV003220115] |
Chr12:40293627 [GRCh38]
Chr12:40687429 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6739T>C (p.Cys2247Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003219788] |
Chr12:40354461 [GRCh38]
Chr12:40748263 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3090A>G (p.Leu1030=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219855] |
Chr12:40295638 [GRCh38]
Chr12:40689440 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4904T>C (p.Leu1635Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003219923] |
Chr12:40320064 [GRCh38]
Chr12:40713866 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1361A>G (p.His454Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638923]|Inborn genetic diseases [RCV003219999] |
Chr12:40257320 [GRCh38]
Chr12:40651122 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3887A>C (p.Asp1296Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003205754] |
Chr12:40305894 [GRCh38]
Chr12:40699696 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4811G>A (p.Cys1604Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003205808] |
Chr12:40315284 [GRCh38]
Chr12:40709086 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4190G>T (p.Gly1397Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003205832] |
Chr12:40309106 [GRCh38]
Chr12:40702908 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4688A>G (p.Gln1563Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003205840] |
Chr12:40314123 [GRCh38]
Chr12:40707925 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2905A>C (p.Arg969=) |
single nucleotide variant |
Inborn genetic diseases [RCV003206051] |
Chr12:40295453 [GRCh38]
Chr12:40689255 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6770G>A (p.Ser2257Asn) |
single nucleotide variant |
not provided [RCV003225475] |
Chr12:40354492 [GRCh38]
Chr12:40748294 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6322G>C (p.Glu2108Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003182508] |
Chr12:40348450 [GRCh38]
Chr12:40742252 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7248C>G (p.Thr2416=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182553] |
Chr12:40364908 [GRCh38]
Chr12:40758710 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5520A>T (p.Leu1840Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003182565] |
Chr12:40323170 [GRCh38]
Chr12:40716972 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3126G>T (p.Leu1042Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003182566] |
Chr12:40298272 [GRCh38]
Chr12:40692074 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.673G>A (p.Val225Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003197953] |
Chr12:40240584 [GRCh38]
Chr12:40634386 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.585A>G (p.Gln195=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205876] |
Chr12:40240496 [GRCh38]
Chr12:40634298 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4029T>C (p.Thr1343=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205885] |
Chr12:40308536 [GRCh38]
Chr12:40702338 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4084C>A (p.Leu1362Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003205956] |
Chr12:40308591 [GRCh38]
Chr12:40702393 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3192T>C (p.Asp1064=) |
single nucleotide variant |
Inborn genetic diseases [RCV003206007] |
Chr12:40298338 [GRCh38]
Chr12:40692140 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3330G>A (p.Glu1110=) |
single nucleotide variant |
Inborn genetic diseases [RCV003206018] |
Chr12:40298476 [GRCh38]
Chr12:40692278 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7194A>G (p.Val2398=) |
single nucleotide variant |
Inborn genetic diseases [RCV003206034] |
Chr12:40364854 [GRCh38]
Chr12:40758656 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4434G>A (p.Gly1478=) |
single nucleotide variant |
Inborn genetic diseases [RCV003220042] |
Chr12:40310547 [GRCh38]
Chr12:40704349 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5335C>G (p.Gln1779Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003220035] |
Chr12:40322336 [GRCh38]
Chr12:40716138 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2869G>T (p.Asp957Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003220092] |
Chr12:40294905 [GRCh38]
Chr12:40688707 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5544C>T (p.Leu1848=) |
single nucleotide variant |
Inborn genetic diseases [RCV003220019] |
Chr12:40323194 [GRCh38]
Chr12:40716996 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7472C>G (p.Ser2491Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003205719] |
Chr12:40367653 [GRCh38]
Chr12:40761455 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.751A>G (p.Asn251Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003779795]|not provided [RCV003221654] |
Chr12:40243594 [GRCh38]
Chr12:40637396 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5179C>G (p.Leu1727Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003205768] |
Chr12:40322043 [GRCh38]
Chr12:40715845 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6133A>G (p.Arg2045Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003205949] |
Chr12:40346776 [GRCh38]
Chr12:40740578 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7113T>C (p.Pro2371=) |
single nucleotide variant |
Inborn genetic diseases [RCV003205964] |
Chr12:40363486 [GRCh38]
Chr12:40757288 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1549C>A (p.Pro517Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003176349] |
Chr12:40263794 [GRCh38]
Chr12:40657596 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3318A>G (p.Val1106=) |
single nucleotide variant |
Inborn genetic diseases [RCV003176350] |
Chr12:40298464 [GRCh38]
Chr12:40692266 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.481A>G (p.Met161Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003176351] |
Chr12:40238013 [GRCh38]
Chr12:40631815 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4245C>T (p.Tyr1415=) |
single nucleotide variant |
Inborn genetic diseases [RCV003176352] |
Chr12:40309161 [GRCh38]
Chr12:40702963 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4038T>C (p.Gly1346=) |
single nucleotide variant |
Inborn genetic diseases [RCV003176354] |
Chr12:40308545 [GRCh38]
Chr12:40702347 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.903G>T (p.Gln301His) |
single nucleotide variant |
Inborn genetic diseases [RCV003176355] |
Chr12:40249890 [GRCh38]
Chr12:40643692 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1863A>G (p.Ile621Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003176356] |
Chr12:40274915 [GRCh38]
Chr12:40668717 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4343T>A (p.Ile1448Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003176357] |
Chr12:40310456 [GRCh38]
Chr12:40704258 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3080C>T (p.Pro1027Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003176358] |
Chr12:40295628 [GRCh38]
Chr12:40689430 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5818A>G (p.Ile1940Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003176359] |
Chr12:40335027 [GRCh38]
Chr12:40728829 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6454G>C (p.Val2152Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003176360] |
Chr12:40351611 [GRCh38]
Chr12:40745413 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1726G>A (p.Ala576Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003176362] |
Chr12:40274652 [GRCh38]
Chr12:40668454 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1693A>G (p.Lys565Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003176363] |
Chr12:40274619 [GRCh38]
Chr12:40668421 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4271G>A (p.Gly1424Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003177788] |
Chr12:40309187 [GRCh38]
Chr12:40702989 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2739A>T (p.Val913=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177819] |
Chr12:40293594 [GRCh38]
Chr12:40687396 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2934T>C (p.Ala978=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177793] |
Chr12:40295482 [GRCh38]
Chr12:40689284 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1730T>C (p.Leu577Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003177795] |
Chr12:40274656 [GRCh38]
Chr12:40668458 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3708C>G (p.Asp1236Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003177802] |
Chr12:40304065 [GRCh38]
Chr12:40697867 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3189T>C (p.Leu1063=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177808] |
Chr12:40298335 [GRCh38]
Chr12:40692137 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5368G>C (p.Glu1790Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003177812] |
Chr12:40322369 [GRCh38]
Chr12:40716171 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6959G>A (p.Gly2320Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003182510] |
Chr12:40359375 [GRCh38]
Chr12:40753177 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2213C>G (p.Ala738Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003182511] |
Chr12:40278233 [GRCh38]
Chr12:40672035 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2074C>T (p.Leu692=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182512] |
Chr12:40278094 [GRCh38]
Chr12:40671896 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7029G>T (p.Leu2343=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182513] |
Chr12:40363402 [GRCh38]
Chr12:40757204 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.32A>C (p.Glu11Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003182516] |
Chr12:40225163 [GRCh38]
Chr12:40618965 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6756C>T (p.Ser2252=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182517] |
Chr12:40354478 [GRCh38]
Chr12:40748280 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.74A>G (p.Asn25Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003182518] |
Chr12:40225205 [GRCh38]
Chr12:40619007 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4449A>G (p.Arg1483=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182519] |
Chr12:40310562 [GRCh38]
Chr12:40704364 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6715G>C (p.Glu2239Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003182520] |
Chr12:40354437 [GRCh38]
Chr12:40748239 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4328C>A (p.Ser1443Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003182521] |
Chr12:40310441 [GRCh38]
Chr12:40704243 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2221G>A (p.Gly741Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003182522] |
Chr12:40278241 [GRCh38]
Chr12:40672043 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6681C>A (p.Ile2227=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182523] |
Chr12:40354403 [GRCh38]
Chr12:40748205 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4786T>C (p.Tyr1596His) |
single nucleotide variant |
Inborn genetic diseases [RCV003182549] |
Chr12:40315259 [GRCh38]
Chr12:40709061 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6744G>A (p.Leu2248=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182514] |
Chr12:40354466 [GRCh38]
Chr12:40748268 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3637G>A (p.Gly1213Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003182547] |
Chr12:40303994 [GRCh38]
Chr12:40697796 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1929A>C (p.Glu643Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003182548] |
Chr12:40274981 [GRCh38]
Chr12:40668783 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3640C>T (p.Pro1214Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003182550] |
Chr12:40303997 [GRCh38]
Chr12:40697799 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1390A>G (p.Lys464Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003182551] |
Chr12:40257349 [GRCh38]
Chr12:40651151 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.282T>C (p.Gly94=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182552] |
Chr12:40232318 [GRCh38]
Chr12:40626120 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1072A>G (p.Thr358Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003182554] |
Chr12:40251345 [GRCh38]
Chr12:40645147 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2390A>G (p.Asp797Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003182555] |
Chr12:40284023 [GRCh38]
Chr12:40677825 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2700C>A (p.Gly900=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182556] |
Chr12:40293555 [GRCh38]
Chr12:40687357 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3532C>T (p.Leu1178=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182558] |
Chr12:40302824 [GRCh38]
Chr12:40696626 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6352A>T (p.Asn2118Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003182559] |
Chr12:40348480 [GRCh38]
Chr12:40742282 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4044C>T (p.Thr1348=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182560] |
Chr12:40308551 [GRCh38]
Chr12:40702353 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3838G>A (p.Glu1280Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003182561] |
Chr12:40305845 [GRCh38]
Chr12:40699647 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.314T>A (p.Val105Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003182562] |
Chr12:40232350 [GRCh38]
Chr12:40626152 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2850A>G (p.Arg950=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182563] |
Chr12:40294886 [GRCh38]
Chr12:40688688 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6966G>T (p.Lys2322Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003182571] |
Chr12:40359382 [GRCh38]
Chr12:40753184 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.616A>G (p.Met206Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003182567] |
Chr12:40240527 [GRCh38]
Chr12:40634329 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6691G>T (p.Asp2231Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003182569] |
Chr12:40354413 [GRCh38]
Chr12:40748215 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4135C>A (p.Gln1379Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003182570] |
Chr12:40308642 [GRCh38]
Chr12:40702444 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2793A>G (p.Arg931=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182572] |
Chr12:40293648 [GRCh38]
Chr12:40687450 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4874T>C (p.Ile1625Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003182573] |
Chr12:40320034 [GRCh38]
Chr12:40713836 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4010T>C (p.Leu1337Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003182574] |
Chr12:40308517 [GRCh38]
Chr12:40702319 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.18T>C (p.Cys6=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182589] |
Chr12:40225149 [GRCh38]
Chr12:40618951 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6608C>T (p.Ala2203Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003182590] |
Chr12:40354330 [GRCh38]
Chr12:40748132 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3622A>G (p.Ile1208Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003182591] |
Chr12:40303979 [GRCh38]
Chr12:40697781 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.209C>T (p.Ser70Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003182592] |
Chr12:40225612 [GRCh38]
Chr12:40619414 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4011T>A (p.Leu1337=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182593] |
Chr12:40308518 [GRCh38]
Chr12:40702320 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2896T>C (p.Ser966Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003182594] |
Chr12:40295444 [GRCh38]
Chr12:40689246 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4011T>C (p.Leu1337=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182595] |
Chr12:40308518 [GRCh38]
Chr12:40702320 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6009C>T (p.Phe2003=) |
single nucleotide variant |
Inborn genetic diseases [RCV003182596] |
Chr12:40340354 [GRCh38]
Chr12:40734156 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5044C>T (p.Leu1682Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003182597] |
Chr12:40321062 [GRCh38]
Chr12:40714864 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1019A>G (p.Asp340Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003182598] |
Chr12:40251292 [GRCh38]
Chr12:40645094 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2488A>G (p.Arg830Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003182599] |
Chr12:40284121 [GRCh38]
Chr12:40677923 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4619A>G (p.Asn1540Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003182601] |
Chr12:40314054 [GRCh38]
Chr12:40707856 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3842T>C (p.Leu1281Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003182602] |
Chr12:40305849 [GRCh38]
Chr12:40699651 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2294G>T (p.Gly765Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003182603] |
Chr12:40283927 [GRCh38]
Chr12:40677729 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5193A>G (p.Arg1731=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165136] |
Chr12:40322057 [GRCh38]
Chr12:40715859 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2658G>T (p.Val886=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165141] |
Chr12:40287508 [GRCh38]
Chr12:40681310 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1448T>A (p.Val483Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003165151] |
Chr12:40259509 [GRCh38]
Chr12:40653311 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2304A>G (p.Glu768=) |
single nucleotide variant |
Inborn genetic diseases [RCV003165159] |
Chr12:40283937 [GRCh38]
Chr12:40677739 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.596T>G (p.Phe199Cys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003525364]|Inborn genetic diseases [RCV003165165] |
Chr12:40240507 [GRCh38]
Chr12:40634309 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4795G>C (p.Glu1599Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003165169] |
Chr12:40315268 [GRCh38]
Chr12:40709070 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4628T>C (p.Ile1543Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003165171] |
Chr12:40314063 [GRCh38]
Chr12:40707865 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2955A>T (p.Thr985=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219819] |
Chr12:40295503 [GRCh38]
Chr12:40689305 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4478A>C (p.Glu1493Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003219823] |
Chr12:40310591 [GRCh38]
Chr12:40704393 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3990G>A (p.Val1330=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219954] |
Chr12:40308497 [GRCh38]
Chr12:40702299 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6306C>T (p.Ala2102=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219894] |
Chr12:40348434 [GRCh38]
Chr12:40742236 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5421G>C (p.Leu1807=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219897] |
Chr12:40322422 [GRCh38]
Chr12:40716224 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5019G>A (p.Leu1673=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219943] |
Chr12:40321037 [GRCh38]
Chr12:40714839 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1104G>A (p.Glu368=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219974] |
Chr12:40251467 [GRCh38]
Chr12:40645269 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2340G>C (p.Gly780=) |
single nucleotide variant |
Inborn genetic diseases [RCV003219988] |
Chr12:40283973 [GRCh38]
Chr12:40677775 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6481A>G (p.Asn2161Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003310470] |
Chr12:40351638 [GRCh38]
Chr12:40745440 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3203A>G (p.Asn1068Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003310474] |
Chr12:40298349 [GRCh38]
Chr12:40692151 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2296T>A (p.Ser766Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003310471] |
Chr12:40283929 [GRCh38]
Chr12:40677731 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7215A>G (p.Lys2405=) |
single nucleotide variant |
Inborn genetic diseases [RCV003310472] |
Chr12:40364875 [GRCh38]
Chr12:40758677 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1409T>C (p.Phe470Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003777137]|Inborn genetic diseases [RCV003310473] |
Chr12:40257368 [GRCh38]
Chr12:40651170 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2362A>T (p.Ser788Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003310475] |
Chr12:40283995 [GRCh38]
Chr12:40677797 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6580G>T (p.Val2194Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003310476] |
Chr12:40354302 [GRCh38]
Chr12:40748104 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6784T>G (p.Phe2262Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003310477] |
Chr12:40356128 [GRCh38]
Chr12:40749930 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2438T>A (p.Val813Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003310478] |
Chr12:40284071 [GRCh38]
Chr12:40677873 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3038T>C (p.Leu1013Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003310480] |
Chr12:40295586 [GRCh38]
Chr12:40689388 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4206T>C (p.Tyr1402=) |
single nucleotide variant |
Inborn genetic diseases [RCV003310481] |
Chr12:40309122 [GRCh38]
Chr12:40702924 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.537T>C (p.Leu179=) |
single nucleotide variant |
Inborn genetic diseases [RCV003310482] |
Chr12:40238069 [GRCh38]
Chr12:40631871 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6459A>G (p.Glu2153=) |
single nucleotide variant |
Inborn genetic diseases [RCV003310483] |
Chr12:40351616 [GRCh38]
Chr12:40745418 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2201A>G (p.Asp734Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003310484] |
Chr12:40278221 [GRCh38]
Chr12:40672023 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7544A>G (p.Lys2515Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003310485] |
Chr12:40367725 [GRCh38]
Chr12:40761527 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5441A>G (p.Tyr1814Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003310486] |
Chr12:40322442 [GRCh38]
Chr12:40716244 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1668T>A (p.Asn556Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003310487] |
Chr12:40274594 [GRCh38]
Chr12:40668396 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4331C>A (p.Ser1444Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003310488] |
Chr12:40310444 [GRCh38]
Chr12:40704246 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3497C>T (p.Ala1166Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003310489] |
Chr12:40302789 [GRCh38]
Chr12:40696591 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.687A>G (p.Leu229=) |
single nucleotide variant |
Inborn genetic diseases [RCV003310492] |
Chr12:40240598 [GRCh38]
Chr12:40634400 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6689A>T (p.Glu2230Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003310493] |
Chr12:40354411 [GRCh38]
Chr12:40748213 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4036G>A (p.Gly1346Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003310494] |
Chr12:40308543 [GRCh38]
Chr12:40702345 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3040G>C (p.Glu1014Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003310495] |
Chr12:40295588 [GRCh38]
Chr12:40689390 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2395G>A (p.Ala799Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003310496] |
Chr12:40284028 [GRCh38]
Chr12:40677830 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.793A>G (p.Arg265Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003310497] |
Chr12:40243636 [GRCh38]
Chr12:40637438 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7231T>C (p.Ser2411Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003310498] |
Chr12:40364891 [GRCh38]
Chr12:40758693 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.221T>C (p.Val74Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003310499] |
Chr12:40225624 [GRCh38]
Chr12:40619426 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4142G>A (p.Arg1381Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003310500] |
Chr12:40308649 [GRCh38]
Chr12:40702451 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7223T>A (p.Met2408Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003310501] |
Chr12:40364883 [GRCh38]
Chr12:40758685 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4244A>C (p.Tyr1415Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003310503] |
Chr12:40309160 [GRCh38]
Chr12:40702962 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.715G>A (p.Val239Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003310504] |
Chr12:40243558 [GRCh38]
Chr12:40637360 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.760G>A (p.Val254Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003310505] |
Chr12:40243603 [GRCh38]
Chr12:40637405 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4277C>T (p.Ala1426Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003310506] |
Chr12:40309193 [GRCh38]
Chr12:40702995 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3359C>T (p.Ser1120Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003310507] |
Chr12:40299120 [GRCh38]
Chr12:40692922 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5977C>A (p.Arg1993=) |
single nucleotide variant |
Inborn genetic diseases [RCV003310508] |
Chr12:40340322 [GRCh38]
Chr12:40734124 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2544G>A (p.Met848Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003310509] |
Chr12:40287394 [GRCh38]
Chr12:40681196 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.397G>T (p.Val133Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003310510] |
Chr12:40235675 [GRCh38]
Chr12:40629477 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3717A>G (p.Glu1239=) |
single nucleotide variant |
Inborn genetic diseases [RCV003310511] |
Chr12:40304074 [GRCh38]
Chr12:40697876 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6771C>A (p.Ser2257Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003448729] |
Chr12:40356115 [GRCh38]
Chr12:40749917 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4332T>C (p.Ser1444=) |
single nucleotide variant |
Inborn genetic diseases [RCV003357914] |
Chr12:40310445 [GRCh38]
Chr12:40704247 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7055C>T (p.Ser2352Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003360760] |
Chr12:40363428 [GRCh38]
Chr12:40757230 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6229T>C (p.Leu2077=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360759] |
Chr12:40346872 [GRCh38]
Chr12:40740674 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7033T>C (p.Ser2345Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003360775] |
Chr12:40363406 [GRCh38]
Chr12:40757208 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1112G>T (p.Cys371Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003360783] |
Chr12:40251475 [GRCh38]
Chr12:40645277 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5308T>A (p.Cys1770Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003360788] |
Chr12:40322172 [GRCh38]
Chr12:40715974 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3645A>C (p.Ala1215=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360790] |
Chr12:40304002 [GRCh38]
Chr12:40697804 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.836T>C (p.Leu279Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003360791] |
Chr12:40243679 [GRCh38]
Chr12:40637481 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3685C>T (p.His1229Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003387091] |
Chr12:40304042 [GRCh38]
Chr12:40697844 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5134T>C (p.Leu1712=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350643] |
Chr12:40321152 [GRCh38]
Chr12:40714954 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2662G>T (p.Ala888Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003350644] |
Chr12:40287512 [GRCh38]
Chr12:40681314 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.737A>T (p.Asn246Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003350645] |
Chr12:40243580 [GRCh38]
Chr12:40637382 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.293G>T (p.Ser98Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003350646] |
Chr12:40232329 [GRCh38]
Chr12:40626131 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.298A>G (p.Met100Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003350647] |
Chr12:40232334 [GRCh38]
Chr12:40626136 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6404C>G (p.Ala2135Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003350665] |
Chr12:40351561 [GRCh38]
Chr12:40745363 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4025A>T (p.Asn1342Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003350664] |
Chr12:40308532 [GRCh38]
Chr12:40702334 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.390C>T (p.Asn130=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350663] |
Chr12:40235668 [GRCh38]
Chr12:40629470 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2026T>C (p.Phe676Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003350662] |
Chr12:40277972 [GRCh38]
Chr12:40671774 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7299T>C (p.His2433=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350661] |
Chr12:40364959 [GRCh38]
Chr12:40758761 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2568A>G (p.Thr856=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350660] |
Chr12:40287418 [GRCh38]
Chr12:40681220 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7085C>G (p.Ala2362Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003350659] |
Chr12:40363458 [GRCh38]
Chr12:40757260 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.860T>A (p.Val287Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003387105] |
Chr12:40249847 [GRCh38]
Chr12:40643649 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7205A>G (p.Lys2402Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003387119] |
Chr12:40364865 [GRCh38]
Chr12:40758667 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6436T>G (p.Leu2146Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003387120] |
Chr12:40351593 [GRCh38]
Chr12:40745395 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5351T>C (p.Ile1784Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003387121] |
Chr12:40322352 [GRCh38]
Chr12:40716154 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4925C>T (p.Pro1642Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003387122] |
Chr12:40320085 [GRCh38]
Chr12:40713887 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3495T>C (p.Leu1165=) |
single nucleotide variant |
Inborn genetic diseases [RCV003387123] |
Chr12:40299256 [GRCh38]
Chr12:40693058 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5641C>A (p.Pro1881Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003361794] |
Chr12:40323291 [GRCh38]
Chr12:40717093 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.516C>T (p.Ala172=) |
single nucleotide variant |
Inborn genetic diseases [RCV003361749] |
Chr12:40238048 [GRCh38]
Chr12:40631850 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2563G>A (p.Gly855Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003361799] |
Chr12:40287413 [GRCh38]
Chr12:40681215 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1812T>G (p.Cys604Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003350631] |
Chr12:40274864 [GRCh38]
Chr12:40668666 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1723G>C (p.Asp575His) |
single nucleotide variant |
Inborn genetic diseases [RCV003350632] |
Chr12:40274649 [GRCh38]
Chr12:40668451 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2469A>G (p.Pro823=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350633] |
Chr12:40284102 [GRCh38]
Chr12:40677904 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.304C>A (p.Pro102Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003350634] |
Chr12:40232340 [GRCh38]
Chr12:40626142 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2221G>C (p.Gly741Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003350635] |
Chr12:40278241 [GRCh38]
Chr12:40672043 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6152A>G (p.Asn2051Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003350636] |
Chr12:40346795 [GRCh38]
Chr12:40740597 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.657G>A (p.Glu219=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350637] |
Chr12:40240568 [GRCh38]
Chr12:40634370 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2646T>C (p.Ser882=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350638] |
Chr12:40287496 [GRCh38]
Chr12:40681298 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5152T>G (p.Tyr1718Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003350639] |
Chr12:40321170 [GRCh38]
Chr12:40714972 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6844C>A (p.Leu2282Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003350640] |
Chr12:40359260 [GRCh38]
Chr12:40753062 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.794G>A (p.Arg265Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003350641] |
Chr12:40243637 [GRCh38]
Chr12:40637439 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3405C>A (p.Asn1135Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003350642] |
Chr12:40299166 [GRCh38]
Chr12:40692968 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4302G>T (p.Trp1434Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003350648] |
Chr12:40309218 [GRCh38]
Chr12:40703020 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.656A>C (p.Glu219Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003350649] |
Chr12:40240567 [GRCh38]
Chr12:40634369 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2715A>G (p.Lys905=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350650] |
Chr12:40293570 [GRCh38]
Chr12:40687372 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1963A>G (p.Ile655Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003350651] |
Chr12:40277909 [GRCh38]
Chr12:40671711 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3954C>T (p.Ile1318=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350652] |
Chr12:40305961 [GRCh38]
Chr12:40699763 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7147C>T (p.Leu2383Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003350653] |
Chr12:40363520 [GRCh38]
Chr12:40757322 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4944G>C (p.Gln1648His) |
single nucleotide variant |
Inborn genetic diseases [RCV003350654] |
Chr12:40320104 [GRCh38]
Chr12:40713906 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1258A>G (p.Asn420Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003350655] |
Chr12:40252986 [GRCh38]
Chr12:40646788 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2144G>A (p.Arg715Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003350656] |
Chr12:40278164 [GRCh38]
Chr12:40671966 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2609C>A (p.Ser870Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003350657] |
Chr12:40287459 [GRCh38]
Chr12:40681261 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4654C>A (p.Arg1552=) |
single nucleotide variant |
Inborn genetic diseases [RCV003350658] |
Chr12:40314089 [GRCh38]
Chr12:40707891 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5611A>C (p.Asn1871His) |
single nucleotide variant |
Inborn genetic diseases [RCV003387107] |
Chr12:40323261 [GRCh38]
Chr12:40717063 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.100A>T (p.Thr34Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003387108] |
Chr12:40225231 [GRCh38]
Chr12:40619033 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7444G>T (p.Gly2482Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003387109] |
Chr12:40367059 [GRCh38]
Chr12:40760861 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.785T>C (p.Met262Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003387111] |
Chr12:40243628 [GRCh38]
Chr12:40637430 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7472C>T (p.Ser2491Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003387112] |
Chr12:40367653 [GRCh38]
Chr12:40761455 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6923A>G (p.Asn2308Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003387113] |
Chr12:40359339 [GRCh38]
Chr12:40753141 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.993A>G (p.Glu331=) |
single nucleotide variant |
Inborn genetic diseases [RCV003387114] |
Chr12:40251266 [GRCh38]
Chr12:40645068 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5858G>A (p.Gly1953Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003387115] |
Chr12:40335067 [GRCh38]
Chr12:40728869 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2842C>G (p.Arg948Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003873881] |
Chr12:40294878 [GRCh38]
Chr12:40688680 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4976C>G (p.Ala1659Gly) |
single nucleotide variant |
not specified [RCV003479996] |
Chr12:40320136 [GRCh38]
Chr12:40713938 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7182G>C (p.Arg2394Ser) |
single nucleotide variant |
not specified [RCV003405090] |
Chr12:40364842 [GRCh38]
Chr12:40758644 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7348A>G (p.Asn2450Asp) |
single nucleotide variant |
not provided [RCV003442548] |
Chr12:40365008 [GRCh38]
Chr12:40758810 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3596G>A (p.Arg1199Gln) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526530] |
Chr12:40303953 [GRCh38]
Chr12:40697755 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2165G>A (p.Ser722Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526541] |
Chr12:40278185 [GRCh38]
Chr12:40671987 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1568A>T (p.Asp523Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003876534] |
Chr12:40263813 [GRCh38]
Chr12:40657615 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6843+8T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526798] |
Chr12:40356195 [GRCh38]
Chr12:40749997 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6463A>G (p.Met2155Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526860] |
Chr12:40351620 [GRCh38]
Chr12:40745422 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5173C>A (p.Arg1725=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526852] |
Chr12:40322037 [GRCh38]
Chr12:40715839 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6281-18T>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003525598] |
Chr12:40348391 [GRCh38]
Chr12:40742193 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2127A>C (p.Lys709Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003527255] |
Chr12:40278147 [GRCh38]
Chr12:40671949 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6336A>G (p.Lys2112=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003525722] |
Chr12:40348464 [GRCh38]
Chr12:40742266 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1656+12A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003527446] |
Chr12:40263913 [GRCh38]
Chr12:40657715 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7043C>G (p.Ala2348Gly) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003527481] |
Chr12:40363416 [GRCh38]
Chr12:40757218 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5020_5023del (p.Ser1674fs) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV003526889] |
Chr12:40321036..40321039 [GRCh38]
Chr12:40714838..40714841 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.181_198del (p.His61_Ile66del) |
deletion |
Autosomal dominant Parkinson disease 8 [RCV003526421] |
Chr12:40225581..40225598 [GRCh38]
Chr12:40619383..40619400 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4615A>G (p.Lys1539Glu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526986] |
Chr12:40314050 [GRCh38]
Chr12:40707852 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1851G>A (p.Lys617=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526542] |
Chr12:40274903 [GRCh38]
Chr12:40668705 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3014G>A (p.Cys1005Tyr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003527242] |
Chr12:40295562 [GRCh38]
Chr12:40689364 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7337G>A (p.Arg2446His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003827177]|not provided [RCV003885386] |
Chr12:40364997 [GRCh38]
Chr12:40758799 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_198578.4(LRRK2):c.571+18del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV003526995] |
Chr12:40238119 [GRCh38]
Chr12:40631921 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4537-17C>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003527317] |
Chr12:40313955 [GRCh38]
Chr12:40707757 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.972C>T (p.Phe324=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003527375] |
Chr12:40251245 [GRCh38]
Chr12:40645047 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.867C>A (p.Asn289Lys) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003525648] |
Chr12:40249854 [GRCh38]
Chr12:40643656 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7496A>G (p.Asn2499Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003879097] |
Chr12:40367677 [GRCh38]
Chr12:40761479 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2698G>A (p.Gly900Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003527517] |
Chr12:40293553 [GRCh38]
Chr12:40687355 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4322G>C (p.Arg1441Pro) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526459] |
Chr12:40310435 [GRCh38]
Chr12:40704237 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1941+5G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003527593] |
Chr12:40274998 [GRCh38]
Chr12:40668800 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6771-15del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV003525723] |
Chr12:40356100 [GRCh38]
Chr12:40749902 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6711C>G (p.Thr2237=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003827765] |
Chr12:40354433 [GRCh38]
Chr12:40748235 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2873C>T (p.Ser958Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003839597] |
Chr12:40294909 [GRCh38]
Chr12:40688711 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4828-17T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003814534] |
Chr12:40319971 [GRCh38]
Chr12:40713773 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2356A>T (p.Ile786Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003850863] |
Chr12:40283989 [GRCh38]
Chr12:40677791 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4174G>A (p.Val1392Met) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003815819] |
Chr12:40308681 [GRCh38]
Chr12:40702483 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1616A>G (p.Lys539Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638237] |
Chr12:40263861 [GRCh38]
Chr12:40657663 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6206C>G (p.Thr2069Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638526] |
Chr12:40346849 [GRCh38]
Chr12:40740651 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.546A>T (p.Lys182Asn) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639606] |
Chr12:40238078 [GRCh38]
Chr12:40631880 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5875C>A (p.Leu1959Ile) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638423] |
Chr12:40335084 [GRCh38]
Chr12:40728886 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4613G>A (p.Arg1538His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639979] |
Chr12:40314048 [GRCh38]
Chr12:40707850 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.347+13G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639304] |
Chr12:40232396 [GRCh38]
Chr12:40626198 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7182G>A (p.Arg2394=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003640250] |
Chr12:40364842 [GRCh38]
Chr12:40758644 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1288+12G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003640251] |
Chr12:40253028 [GRCh38]
Chr12:40646830 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1102-15del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV003640197] |
Chr12:40251445 [GRCh38]
Chr12:40645247 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.1497A>C (p.Pro499=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003870570] |
Chr12:40259558 [GRCh38]
Chr12:40653360 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6843+12A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639068] |
Chr12:40356199 [GRCh38]
Chr12:40750001 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2689+20del |
deletion |
Autosomal dominant Parkinson disease 8 [RCV003854229] |
Chr12:40287551 [GRCh38]
Chr12:40681353 [GRCh37]
Chr12:12q12 |
benign |
| NM_198578.4(LRRK2):c.2262T>A (p.Ser754Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638404] |
Chr12:40283895 [GRCh38]
Chr12:40677697 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2811G>A (p.Gly937=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003820467] |
Chr12:40294847 [GRCh38]
Chr12:40688649 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.21G>T (p.Gln7His) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003640167] |
Chr12:40225152 [GRCh38]
Chr12:40618954 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6047C>T (p.Ala2016Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639037] |
Chr12:40340392 [GRCh38]
Chr12:40734194 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5338G>T (p.Val1780Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638356] |
Chr12:40322339 [GRCh38]
Chr12:40716141 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6844-15_6844-14insC |
insertion |
Autosomal dominant Parkinson disease 8 [RCV003640317] |
Chr12:40359245..40359246 [GRCh38]
Chr12:40753047..40753048 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5857G>C (p.Gly1953Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639854] |
Chr12:40335066 [GRCh38]
Chr12:40728868 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6110-8A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639030]|LRRK2-related condition [RCV003909059] |
Chr12:40346745 [GRCh38]
Chr12:40740547 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7029-4G>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639035] |
Chr12:40363398 [GRCh38]
Chr12:40757200 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7029-3T>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003640291] |
Chr12:40363399 [GRCh38]
Chr12:40757201 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1450G>T (p.Val484Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003640311] |
Chr12:40259511 [GRCh38]
Chr12:40653313 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.347+16A>G |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003640360] |
Chr12:40232399 [GRCh38]
Chr12:40626201 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4317+4A>T |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003864318] |
Chr12:40309237 [GRCh38]
Chr12:40703039 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6938A>G (p.Asn2313Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639281] |
Chr12:40359354 [GRCh38]
Chr12:40753156 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.63C>A (p.Val21=) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003866515] |
Chr12:40225194 [GRCh38]
Chr12:40618996 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3490T>G (p.Phe1164Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638316] |
Chr12:40299251 [GRCh38]
Chr12:40693053 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5237C>A (p.Ala1746Asp) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003337768] |
Chr12:40322101 [GRCh38]
Chr12:40715903 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4613G>T (p.Arg1538Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003330251] |
Chr12:40314048 [GRCh38]
Chr12:40707850 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1995G>T (p.Leu665=) |
single nucleotide variant |
Inborn genetic diseases [RCV003357738] |
Chr12:40277941 [GRCh38]
Chr12:40671743 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3526A>G (p.Thr1176Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003357858] |
Chr12:40302818 [GRCh38]
Chr12:40696620 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6017A>T (p.Tyr2006Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003357845] |
Chr12:40340362 [GRCh38]
Chr12:40734164 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2337T>C (p.Ile779=) |
single nucleotide variant |
Inborn genetic diseases [RCV003357797] |
Chr12:40283970 [GRCh38]
Chr12:40677772 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1341G>A (p.Glu447=) |
single nucleotide variant |
Inborn genetic diseases [RCV003357829] |
Chr12:40257300 [GRCh38]
Chr12:40651102 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6704G>C (p.Arg2235Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003357850] |
Chr12:40354426 [GRCh38]
Chr12:40748228 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6622C>T (p.Pro2208Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003357871] |
Chr12:40354344 [GRCh38]
Chr12:40748146 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3725A>G (p.Tyr1242Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003357896] |
Chr12:40304082 [GRCh38]
Chr12:40697884 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2088C>G (p.Cys696Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003357904] |
Chr12:40278108 [GRCh38]
Chr12:40671910 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7332T>A (p.Leu2444=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360766] |
Chr12:40364992 [GRCh38]
Chr12:40758794 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6848A>C (p.Lys2283Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003360764] |
Chr12:40359264 [GRCh38]
Chr12:40753066 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4749T>A (p.Leu1583=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360761] |
Chr12:40315222 [GRCh38]
Chr12:40709024 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7579G>A (p.Glu2527Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003360758] |
Chr12:40367760 [GRCh38]
Chr12:40761562 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5277A>G (p.Pro1759=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360757] |
Chr12:40322141 [GRCh38]
Chr12:40715943 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2332A>T (p.Ser778Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003360756] |
Chr12:40283965 [GRCh38]
Chr12:40677767 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3635C>T (p.Pro1212Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003360755] |
Chr12:40303992 [GRCh38]
Chr12:40697794 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1193A>C (p.His398Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003360754] |
Chr12:40252921 [GRCh38]
Chr12:40646723 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7195A>C (p.Lys2399Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003360753] |
Chr12:40364855 [GRCh38]
Chr12:40758657 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3035A>G (p.His1012Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003360752] |
Chr12:40295583 [GRCh38]
Chr12:40689385 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6211G>A (p.Gly2071Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003360751] |
Chr12:40346854 [GRCh38]
Chr12:40740656 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1553A>C (p.Glu518Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003360748] |
Chr12:40263798 [GRCh38]
Chr12:40657600 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4092G>A (p.Met1364Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003360771] |
Chr12:40308599 [GRCh38]
Chr12:40702401 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7533T>G (p.Ile2511Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003360772] |
Chr12:40367714 [GRCh38]
Chr12:40761516 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4063A>T (p.Met1355Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003360773] |
Chr12:40308570 [GRCh38]
Chr12:40702372 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3411T>A (p.Ser1137Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003360774] |
Chr12:40299172 [GRCh38]
Chr12:40692974 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5708T>G (p.Val1903Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003360779] |
Chr12:40328411 [GRCh38]
Chr12:40722213 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4316A>G (p.Lys1439Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003360780] |
Chr12:40309232 [GRCh38]
Chr12:40703034 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1504C>T (p.Leu502=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360782] |
Chr12:40259565 [GRCh38]
Chr12:40653367 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4780G>T (p.Asp1594Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003360786] |
Chr12:40315253 [GRCh38]
Chr12:40709055 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6414C>A (p.Val2138=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360787] |
Chr12:40351571 [GRCh38]
Chr12:40745373 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1724A>G (p.Asp575Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003360793] |
Chr12:40274650 [GRCh38]
Chr12:40668452 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3485T>C (p.Met1162Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003360797] |
Chr12:40299246 [GRCh38]
Chr12:40693048 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6992C>T (p.Thr2331Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003360767] |
Chr12:40359408 [GRCh38]
Chr12:40753210 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5571del (p.Asp1858fs) |
deletion |
not provided [RCV003332539] |
Chr12:40323221 [GRCh38]
Chr12:40717023 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4598T>C (p.Ile1533Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003360768] |
Chr12:40314033 [GRCh38]
Chr12:40707835 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6654G>A (p.Gly2218=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360776] |
Chr12:40354376 [GRCh38]
Chr12:40748178 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4708C>G (p.Pro1570Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003360777] |
Chr12:40314143 [GRCh38]
Chr12:40707945 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1013A>T (p.Asn338Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003360778] |
Chr12:40251286 [GRCh38]
Chr12:40645088 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5729A>C (p.Lys1910Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003360781] |
Chr12:40328432 [GRCh38]
Chr12:40722234 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1145A>G (p.Asn382Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003360763] |
Chr12:40251508 [GRCh38]
Chr12:40645310 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.918A>C (p.Ala306=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360762] |
Chr12:40249905 [GRCh38]
Chr12:40643707 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.6114T>C (p.Phe2038=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360750] |
Chr12:40346757 [GRCh38]
Chr12:40740559 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3815C>T (p.Ser1272Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003360765] |
Chr12:40305822 [GRCh38]
Chr12:40699624 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6710C>A (p.Thr2237Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003360749] |
Chr12:40354432 [GRCh38]
Chr12:40748234 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5638G>A (p.Ala1880Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003360747] |
Chr12:40323288 [GRCh38]
Chr12:40717090 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.879G>A (p.Glu293=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360770] |
Chr12:40249866 [GRCh38]
Chr12:40643668 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5527C>T (p.Pro1843Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003360769] |
Chr12:40323177 [GRCh38]
Chr12:40716979 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4627A>T (p.Ile1543Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003360784] |
Chr12:40314062 [GRCh38]
Chr12:40707864 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3389A>T (p.Glu1130Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003360785] |
Chr12:40299150 [GRCh38]
Chr12:40692952 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4799C>A (p.Pro1600His) |
single nucleotide variant |
Inborn genetic diseases [RCV003360794] |
Chr12:40315272 [GRCh38]
Chr12:40709074 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.36C>G (p.Asp12Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003360796] |
Chr12:40225167 [GRCh38]
Chr12:40618969 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2259C>T (p.Ser753=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360789] |
Chr12:40283892 [GRCh38]
Chr12:40677694 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7122A>G (p.Glu2374=) |
single nucleotide variant |
Inborn genetic diseases [RCV003360792] |
Chr12:40363495 [GRCh38]
Chr12:40757297 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1419C>G (p.Ser473Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003360795] |
Chr12:40259480 [GRCh38]
Chr12:40653282 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5304T>G (p.Pro1768=) |
single nucleotide variant |
Inborn genetic diseases [RCV003387092] |
Chr12:40322168 [GRCh38]
Chr12:40715970 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1446A>C (p.Ala482=) |
single nucleotide variant |
Inborn genetic diseases [RCV003387093] |
Chr12:40259507 [GRCh38]
Chr12:40653309 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5904A>T (p.Arg1968Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003387094] |
Chr12:40335113 [GRCh38]
Chr12:40728915 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4274A>G (p.Gln1425Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003387095] |
Chr12:40309190 [GRCh38]
Chr12:40702992 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7344T>G (p.Ile2448Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003387096] |
Chr12:40365004 [GRCh38]
Chr12:40758806 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4461T>C (p.Phe1487=) |
single nucleotide variant |
Inborn genetic diseases [RCV003387097] |
Chr12:40310574 [GRCh38]
Chr12:40704376 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.198C>G (p.Ile66Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003387100] |
Chr12:40225601 [GRCh38]
Chr12:40619403 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2169C>G (p.Ile723Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003387101] |
Chr12:40278189 [GRCh38]
Chr12:40671991 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6021C>T (p.Pro2007=) |
single nucleotide variant |
Inborn genetic diseases [RCV003387102] |
Chr12:40340366 [GRCh38]
Chr12:40734168 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7471T>C (p.Ser2491Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003387103] |
Chr12:40367652 [GRCh38]
Chr12:40761454 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.328G>A (p.Glu110Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003387104] |
Chr12:40232364 [GRCh38]
Chr12:40626166 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1353G>A (p.Lys451=) |
single nucleotide variant |
Inborn genetic diseases [RCV003373570] |
Chr12:40257312 [GRCh38]
Chr12:40651114 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1950G>A (p.Gln650=) |
single nucleotide variant |
Inborn genetic diseases [RCV003348482] |
Chr12:40277896 [GRCh38]
Chr12:40671698 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7477T>G (p.Leu2493Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003348492] |
Chr12:40367658 [GRCh38]
Chr12:40761460 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2106A>G (p.Val702=) |
single nucleotide variant |
Inborn genetic diseases [RCV003348521] |
Chr12:40278126 [GRCh38]
Chr12:40671928 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.1091A>G (p.Lys364Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003374240] |
Chr12:40251364 [GRCh38]
Chr12:40645166 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3063T>G (p.Asn1021Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003387110] |
Chr12:40295611 [GRCh38]
Chr12:40689413 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4271G>T (p.Gly1424Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003387116] |
Chr12:40309187 [GRCh38]
Chr12:40702989 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1957T>G (p.Leu653Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003387117] |
Chr12:40277903 [GRCh38]
Chr12:40671705 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1643C>A (p.Ala548Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003387118] |
Chr12:40263888 [GRCh38]
Chr12:40657690 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2946A>G (p.Glu982=) |
single nucleotide variant |
Inborn genetic diseases [RCV003387124] |
Chr12:40295494 [GRCh38]
Chr12:40689296 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.769A>T (p.Met257Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003373667] |
Chr12:40243612 [GRCh38]
Chr12:40637414 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2487A>G (p.Leu829=) |
single nucleotide variant |
Inborn genetic diseases [RCV003348503] |
Chr12:40284120 [GRCh38]
Chr12:40677922 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5810C>G (p.Ala1937Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003386876] |
Chr12:40335019 [GRCh38]
Chr12:40728821 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6903G>A (p.Met2301Ile) |
single nucleotide variant |
not provided [RCV003482758] |
Chr12:40359319 [GRCh38]
Chr12:40753121 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2299C>T (p.Arg767Cys) |
single nucleotide variant |
not provided [RCV003482757] |
Chr12:40283932 [GRCh38]
Chr12:40677734 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.4969C>T (p.Gln1657Ter) |
single nucleotide variant |
Interstitial pulmonary disease [RCV003482913] |
Chr12:40320129 [GRCh38]
Chr12:40713931 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_198578.4(LRRK2):c.2189T>C (p.Leu730Pro) |
single nucleotide variant |
LRRK2-related condition [RCV003412119] |
Chr12:40278209 [GRCh38]
Chr12:40672011 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3457C>T (p.Pro1153Ser) |
single nucleotide variant |
not provided [RCV003391709] |
Chr12:40299218 [GRCh38]
Chr12:40693020 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3470G>C (p.Ser1157Thr) |
single nucleotide variant |
not provided [RCV003391710] |
Chr12:40299231 [GRCh38]
Chr12:40693033 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7074G>T (p.Val2358=) |
single nucleotide variant |
not provided [RCV003391711] |
Chr12:40363447 [GRCh38]
Chr12:40757249 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3778-355del |
deletion |
not provided [RCV003390204] |
Chr12:40305429 [GRCh38]
Chr12:40699231 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.5435C>T (p.Ala1812Val) |
single nucleotide variant |
not provided [RCV003390205] |
Chr12:40322436 [GRCh38]
Chr12:40716238 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6714A>C (p.Leu2238=) |
single nucleotide variant |
not provided [RCV003390206] |
Chr12:40354436 [GRCh38]
Chr12:40748238 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.4555G>T (p.Val1519Phe) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003881482] |
Chr12:40313990 [GRCh38]
Chr12:40707792 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.3590A>G (p.His1197Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003526726] |
Chr12:40302882 [GRCh38]
Chr12:40696684 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.5457_5458inv (p.Glu1820Lys) |
inversion |
Autosomal dominant Parkinson disease 8 [RCV003640016] |
Chr12:40322458..40322459 [GRCh38]
Chr12:40716260..40716261 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.7376T>C (p.Met2459Thr) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003640133] |
Chr12:40365036 [GRCh38]
Chr12:40758838 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6533A>G (p.Gln2178Arg) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003868665] |
Chr12:40351690 [GRCh38]
Chr12:40745492 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.775G>T (p.Ala259Ser) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003640329] |
Chr12:40243618 [GRCh38]
Chr12:40637420 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3 |
copy number gain |
not specified [RCV003987001] |
Chr12:38258635..48235837 [GRCh37]
Chr12:12q12-13.11 |
pathogenic |
| NM_198578.4(LRRK2):c.2879-1G>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003820025] |
Chr12:40295426 [GRCh38]
Chr12:40689228 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.1207C>G (p.Leu403Val) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638264] |
Chr12:40252935 [GRCh38]
Chr12:40646737 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6280+14T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638218] |
Chr12:40346937 [GRCh38]
Chr12:40740739 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.7463-8T>C |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003638295] |
Chr12:40367636 [GRCh38]
Chr12:40761438 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.2241+1G>A |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003640175] |
Chr12:40278262 [GRCh38]
Chr12:40672064 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.6707A>T (p.His2236Leu) |
single nucleotide variant |
Autosomal dominant Parkinson disease 8 [RCV003639740] |
Chr12:40354429 [GRCh38]
Chr12:40748231 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_198578.4(LRRK2):c.2076A>C (p.Leu692=) |
single nucleotide variant |
LRRK2-related condition [RCV003954833] |
Chr12:40278096 [GRCh38]
Chr12:40671898 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.852T>C (p.Asn284=) |
single nucleotide variant |
LRRK2-related condition [RCV003983383] |
Chr12:40249839 [GRCh38]
Chr12:40643641 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.3987T>C (p.Ala1329=) |
single nucleotide variant |
LRRK2-related condition [RCV003907085] |
Chr12:40308494 [GRCh38]
Chr12:40702296 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_198578.4(LRRK2):c.193T>C (p.Leu65=) |
single nucleotide variant |
LRRK2-related condition [RCV003904023] |
Chr12:40225596 [GRCh38]
Chr12:40619398 [GRCh37]
Chr12:12q12 |
likely benign |
