GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PKP2 D26Nuncertain benign, f=0.005undefined

Probably benign. This variant has been classified as a rare polymorphism, although other variants in this gene have been implicated in causing autosomal dominant arrhythmogenic right ventricular dysplasia (which can cause sudden death at an early age).

(12 web hits)

CGI sample GS00253-DNA_D01_200_37
PKP2 E58Dinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
PKP2 S70Iinsufficiently evaluated none, f=0.019unknown

(4 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19649-1100-36-ASM (hom)
PKP2 R79Xinsufficiently evaluated pathogenicunknown

(17 web hits)

PKP2 S140Funcertain pathogenic, f=0.002dominant

Implicated as causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in a dominant manner. However, it fails to segregate with disease in studied families and has also been seen in controls. It is unclear whether there is any significant enrichment for this variant in patients — even if so, we estimate the increased risk of ARVD for a carrier of this variant to be quite low (less than .1%).

(14 web hits)

CGI sample GS00253-DNA_G01_200_37
PKP2 H180Ninsufficiently evaluated noneunknown
PKP2 H180Yinsufficiently evaluated noneunknown
PKP2 A264Vinsufficiently evaluated none, f=0.012unknown var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18517-1100-36-ASM
PKP2 T338Ainsufficiently evaluated not reviewed, f=0.001unknown

(2 web hits)

var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
PKP2 L366Puncertain benign, f=0.221unknown

This variant is a benign polymorphism.

(12 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
PKP2 F376Sinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
PKP2 G489Rinsufficiently evaluated not reviewedunknown

(10 web hits)

PKP2 V543Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PKP2 V546Ainsufficiently evaluated not reviewedunknown
PKP2 V590Ainsufficiently evaluated not reviewedunknown
PKP2 R651Cinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_F01_200_37
PKP2 R695Cinsufficiently evaluated not reviewedunknown
PKP2 R735Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PKP2 T754Ainsufficiently evaluated not reviewed, f=0.002unknown var-GS19700-1100-36-ASM
PKP2 D785Ninsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
PKP2 T798Ainsufficiently evaluated not reviewedunknown
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Total results: 21

Gene search

"GENE" or "GENE A123C":

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