GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PARK2 S9Pinsufficiently evaluated not reviewedunknown

(5 web hits)

PARK2 Q34Rinsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
var-GS19026-1100-36-ASM
PARK2 A46Tinsufficiently evaluated none, f=0.007unknown

(7 web hits)

var-GS19239-1100-36-ASM
var-GS18517-1100-36-ASM
PARK2 V56Einsufficiently evaluated pathogenicunknown

(13 web hits)

PARK2 D62Vinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS10851-1100-36-ASM
PARK2 A82Euncertain benign, f=0.002undefined

Reported to cause early onset Parkinson disease in a recessive fashion, as reported to ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000007454/). This report comes from Hedrich et al 2001 (PMID: 11487568), where a study of 21 patients found this substitution variant homozygous in one patient, but coupled with another more severe variant (homozygous deletion of exon 7). It is highly likely that this variant was coincidentally observed, and its relatively high allele frequency in ExAC data (0.5%) also strongly contradicts a serious effect. As such, this reported effect should be considered disproven, or potentially misreported by OMIM to ClinVar.

(19 web hits)

PARK2 P153Rinsufficiently evaluated pathogenic, f=0.005recessive

This variant was implicated in Parkinson’s Disease in two individuals.

(3 web hits)

var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM
PARK2 K161Ninsufficiently evaluated pathogenicunknown

(20 web hits)

PARK2 S167Ninsufficiently evaluated none, f=0.041unknown

(35 web hits)

var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
PARK2 M192Linsufficiently evaluated not reviewed, f=0.020unknown

(5 web hits)

var-GS18501-1100-36-ASM
PARK2 K211Ninsufficiently evaluated pathogenicunknown

(10 web hits)

PARK2 C212Yinsufficiently evaluated pathogenicunknown

(38 web hits)

PARK2 V231Linsufficiently evaluated noneunknown

(1 web hit)

PARK2 T240Rinsufficiently evaluated pathogenicunknown

(23 web hits)

PARK2 T240Minsufficiently evaluated pathogenic, f=0.000unknown

(16 web hits)

PARK2 D243Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
PARK2 D245Ninsufficiently evaluated noneunknown
PARK2 R275Winsufficiently evaluated pathogenic, f=0.002unknown

(47 web hits)

PARK2 Q311Xinsufficiently evaluated pathogenicunknown

(121 web hits)

PARK2 V352Linsufficiently evaluated noneunknown

(1 web hit)

PARK2 R366Winsufficiently evaluated not reviewed, f=0.000unknown var-GS18940-1100-36-ASM
PARK2 D366Ninsufficiently evaluated noneunknown
PARK2 V380Linsufficiently evaluated none, f=0.178unknown

(40 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
CGI sample GS000006909 (hom)
var-GS07357-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PARK2 D394Ninsufficiently evaluated none, f=0.032unknown

(20 web hits)

var-GS19704-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS06985-1100-36-ASM
PARK2 W453Xinsufficiently evaluated pathogenicunknown

(6 web hits)

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Total results: 25

Gene search

"GENE" or "GENE A123C":

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