GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DSG2 R45Qinsufficiently evaluated pathogenicunknown

(9 web hits)

DSG2 R48Hinsufficiently evaluated pathogenicunknown

(9 web hits)

DSG2 V55Minsufficiently evaluated pathogenicunknown

(8 web hits)

DSG2 V56Muncertain benignunknown

Syrris, et al. 2007 reported this in one patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) (no familial data), and implied a high penetrance hypothesis. Posch, et al. 2008 found it in 13 out of 538 patients with dilated cardiomyopathy (DCM), and only 3 of 617 control individuals (p = 0.009); while this may seem significant, the variant is far more common (carried by ~1 in 200) than the diseases ARVC (1 in 2000-5000) and DCM (1 in 2500). This disproves a high penetrance hypothesis, and Posch et al. merely speculate that the variant “may represent a … susceptibility variant”. (No later studies are published confirming this speculation.)

DSG2 R146Linsufficiently evaluated none, f=0.001unknown
DSG2 V158Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
DSG2 N266Sinsufficiently evaluated pathogenicunknown

(24 web hits)

DSG2 I293Vinsufficiently evaluated not reviewed, f=0.063unknown CGI sample GS00253-DNA_E01_200_37
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06985-1100-36-ASM
DSG2 W305Xinsufficiently evaluated pathogenicunknown

(9 web hits)

DSG2 E331Kinsufficiently evaluated pathogenicunknown

(6 web hits)

DSG2 S351Ginsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
DSG2 V392Iinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_G01_200_37
DSG2 C506Yinsufficiently evaluated pathogenicunknown

(9 web hits)

DSG2 V515Iinsufficiently evaluated not reviewed, f=0.007unknown
DSG2 E693Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
DSG2 E713Kinsufficiently evaluated not reviewed, f=0.058unknown

(7 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS06985-1100-36-ASM
DSG2 T745Minsufficiently evaluated not reviewedunknown CGI sample GS000005532
DSG2 R773Kinsufficiently evaluated none, f=0.194unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
DSG2 G811Cinsufficiently evaluated pathogenicunknown

(8 web hits)

DSG2 M863Linsufficiently evaluated not reviewed, f=0.007unknown
DSG2 S883Pinsufficiently evaluated not reviewed, f=0.006unknown var-GS18501-1100-36-ASM
DSG2 T903Iinsufficiently evaluated not reviewed, f=0.006unknown var-GS18501-1100-36-ASM
DSG2 V920Ginsufficiently evaluated not reviewed, f=0.004unknown var-GS20502-1100-36-ASM
DSG2 I962Minsufficiently evaluated none, f=0.002unknown CGI sample GS00253-DNA_B02_200_37
var-GS18517-1100-36-ASM
DSG2 GH1094VNinsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
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Total results: 25

Gene search

"GENE" or "GENE A123C":

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