GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RYR2 T279Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
RYR2 R298Cinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
RYR2 G385Xinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
RYR2 I403Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
RYR2 L433Pinsufficiently evaluated pathogenicunknown

(58 web hits)

RYR2 V507Iinsufficiently evaluated not reviewed, f=0.012unknown var-GS19703-1100-36-ASM
RYR2 S756Ninsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_H01_200_37
RYR2 A1136Vinsufficiently evaluated not reviewed, f=0.009unknown var-GS20509-1100-36-ASM
RYR2 R1144Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
RYR2 A1365Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
RYR2 S1400Ginsufficiently evaluated not reviewed, f=0.017unknown hu34D5B9 exome
CGI sample GS000006909
CGI sample GS00253-DNA_A01_200_37
RYR2 G1885Euncertain benign, f=0.018recessive

Hypothesized to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S. However, this variant is quite common (2.4% in Europeans), as is G1886S (3.1% in Europeans), and about 1 in 700 are compound heterozygous. This is highly discordant with a disease prevalence of 1 in 2500 to 5000, and notably G1886S is reported in ClinVar as benign. We should consider the original hypothesis disproven.

(48 web hits)

var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
RYR2 G1886Spathogenic, f=0.061recessive

Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.

(33 web hits)

var-GS19020-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
RYR2 R1888Qinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_E01_200_37
RYR2 S2246Linsufficiently evaluated pathogenicunknown

(90 web hits)

RYR2 P2328Sinsufficiently evaluated pathogenicunknown

(104 web hits)

RYR2 N2386Iinsufficiently evaluated pathogenicunknown

(28 web hits)

RYR2 R2474Sinsufficiently evaluated pathogenicunknown

(99 web hits)

RYR2 A2603Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS18555-1100-36-ASM
RYR2 Q2958Rinsufficiently evaluated not reviewed, f=0.224unknown

(8 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
RYR2 M3231Tinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
RYR2 I3508Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
RYR2 N4104Kinsufficiently evaluated pathogenicunknown

(64 web hits)

RYR2 Q4201Rinsufficiently evaluated pathogenicunknown

(76 web hits)

RYR2 Y4391Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
RYR2 R4497Cinsufficiently evaluated pathogenicunknown

(123 web hits)

RYR2 V4653Finsufficiently evaluated pathogenicunknown

(66 web hits)

RYR2 A4860Ginsufficiently evaluated pathogenicunknown

(15 web hits)

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Total results: 28

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