| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|---|---|---|---|
| RYR2 T279M | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_D06 from PGP sample 69488604 | |
| RYR2 R298C | insufficiently evaluated not reviewed, f=0.008 | unknown | CGI sample GS00253-DNA_B02_200_37 | |
| RYR2 G385X | insufficiently evaluated not reviewed | unknown | CGI sample GS00253-DNA_B02_200_37 | |
| RYR2 I403V | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS19129-1100-36-ASM | |
| RYR2 L433P | insufficiently evaluated pathogenic | unknown |
(58 web hits) | |
| RYR2 V507I | insufficiently evaluated not reviewed, f=0.012 | unknown | var-GS19703-1100-36-ASM | |
| RYR2 S756N | insufficiently evaluated not reviewed, f=0.000 | unknown | CGI sample GS00253-DNA_H01_200_37 | |
| RYR2 A1136V | insufficiently evaluated not reviewed, f=0.009 | unknown | var-GS20509-1100-36-ASM | |
| RYR2 R1144Q | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS19020-1100-36-ASM | |
| RYR2 A1365V | insufficiently evaluated not reviewed, f=0.000 | unknown | var-GS18537-1100-36-ASM | |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 | ||||
| RYR2 S1400G | insufficiently evaluated not reviewed, f=0.017 | unknown | hu34D5B9 exome | |
| CGI sample GS000006909 | ||||
| CGI sample GS00253-DNA_A01_200_37 | ||||
| RYR2 G1885E | uncertain benign, f=0.018 | recessive | 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 G1886S | pathogenic, f=0.061 | recessive | 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 R1888Q | insufficiently evaluated not reviewed, f=0.008 | unknown | CGI sample GS00253-DNA_E01_200_37 | |
| RYR2 S2246L | insufficiently evaluated pathogenic | unknown |
(90 web hits) | |
| RYR2 P2328S | insufficiently evaluated pathogenic | unknown |
(104 web hits) | |
| RYR2 N2386I | insufficiently evaluated pathogenic | unknown |
(28 web hits) | |
| RYR2 R2474S | insufficiently evaluated pathogenic | unknown |
(99 web hits) | |
| RYR2 A2603T | insufficiently evaluated not reviewed, f=0.000 | unknown | var-GS18555-1100-36-ASM | |
| RYR2 Q2958R | insufficiently evaluated not reviewed, f=0.224 | unknown |
(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 M3231T | insufficiently evaluated not reviewed | unknown | hu232307 build 36 substitution variants | |
| RYR2 I3508T | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS19129-1100-36-ASM | |
| RYR2 N4104K | insufficiently evaluated pathogenic | unknown |
(64 web hits) | |
| RYR2 Q4201R | insufficiently evaluated pathogenic | unknown |
(76 web hits) | |
| RYR2 Y4391X | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS19735-1100-36-ASM | |
| RYR2 R4497C | insufficiently evaluated pathogenic | unknown |
(123 web hits) | |
| RYR2 V4653F | insufficiently evaluated pathogenic | unknown |
(66 web hits) | |
| RYR2 A4860G | insufficiently evaluated pathogenic | unknown |
(15 web hits) | |
| Page: 1 2 3 Total results: 28 | ||||