GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RYR1 R109Winsufficiently evaluated pathogenicunknown

(11 web hits)

RYR1 R163Cinsufficiently evaluated pathogenicunknown

(173 web hits)

RYR1 R248Ginsufficiently evaluated pathogenicunknown

(1 web hit)

RYR1 G341Rpathogenicdominant

Mutations in the RYRI gene are associated with the disorder malignant hypothermia, which leads to death under anesthesia, in otherwise normal individuals. The G341R mutation is responsible for a significant number of malignant hypothermia cases, even in heterozygous individuals.

(34 web hits)

RYR1 I403Minsufficiently evaluated pathogenicunknown

(18 web hits)

RYR1 D418Ginsufficiently evaluated not reviewedunknown CGI sample GS000006909
RYR1 Y522Sinsufficiently evaluated pathogenicdominant

RYR1 is a gene on19q13.2 which encodes a skeletal muscle ryanodine receptor, which serves as a calcium release channel of the sarcoplasmic reticulum as well as a bridging structure connecting the sarcoplasmic reticulum and transverse tubule. Mutations to the gene result in malignant hypothermia which is characterized by death by anesthesia. In homozygous Y522S mutations, mice died as embryos. Heterozygous mice, corresponding to the human occurrence of this mutation, were susceptible to malignant hyperthermia and showed susceptibility to heat stress.

(282 web hits)

RYR1 R614Cinsufficiently evaluated pathogenicunknown

(69 web hits)

RYR1 F648Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
RYR1 S750Ginsufficiently evaluated not reviewedunknown
RYR1 G893Suncertain benign, f=0.001unknown

Rare, tentatively evaluated as benign. Some recessive missense variants in this gene are reported to cause malignant hyperthermia and central core disease, but this variant occurs outside of the amino acid regions where these pathogenic variants typically occur.

CGI sample GS00253-DNA_B02_200_37
RYR1 P894Tinsufficiently evaluated not reviewed, f=0.000unknown
RYR1 S1342Ginsufficiently evaluated unknown, f=0.039dominant

This variant is associated with malignant hyperthermia (central core disease). The allelic frequency is quite high, however, and it is the subject of ongoing research.

(4 web hits)

var-GS19703-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM (hom)
RYR1 A1352Ginsufficiently evaluated not reviewed, f=0.003unknown var-GS19703-1100-36-ASM
RYR1 K1393Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
RYR1 P1423Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
RYR1 V1614Ainsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
RYR1 P1632Sinsufficiently evaluated none, f=0.006unknown

(2 web hits)

var-GS19129-1100-36-ASM
RYR1 T1741Sinsufficiently evaluated not reviewedunknown
RYR1 C1781Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
RYR1 P1787Linsufficiently evaluated not reviewed, f=0.016unknown var-GS07357-1100-36-ASM
RYR1 E1894Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
RYR1 E1898Delinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
RYR1 P2002Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
RYR1 G2060Cinsufficiently evaluated not reviewed, f=0.051unknown var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
RYR1 V2073Ginsufficiently evaluated not reviewedunknown
RYR1 R2163Cinsufficiently evaluated pathogenicunknown

(31 web hits)

RYR1 R2163Hinsufficiently evaluated pathogenicunknown

(59 web hits)

RYR1 V2168Minsufficiently evaluated pathogenicunknown

(54 web hits)

RYR1 T2206Minsufficiently evaluated pathogenicunknown

(27 web hits)

RYR1 M2423Kinsufficiently evaluated pathogenicunknown

(5 web hits)

RYR1 G2434Rinsufficiently evaluated pathogenicunknown

(42 web hits)

RYR1 R2435Hinsufficiently evaluated pathogenicunknown

(52 web hits)

RYR1 R2458Cinsufficiently evaluated pathogenicunknown

(19 web hits)

RYR1 R2458Hinsufficiently evaluated pathogenicunknown

(23 web hits)

RYR1 A2557Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS18956-1100-36-ASM
RYR1 R2624Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
RYR1 R2676Winsufficiently evaluated pharmacogeneticunknown

(12 web hits)

RYR1 T2787Sinsufficiently evaluated not reviewed, f=0.011unknown var-GS19703-1100-36-ASM
RYR1 P2793Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
RYR1 D2909Hinsufficiently evaluated not reviewedunknown hu34D5B9 exome
RYR1 M3081Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
RYR1 E3212Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
RYR1 S3450Finsufficiently evaluated pathogenicunknown

(1 web hit)

RYR1 P3527Sinsufficiently evaluated pathogenicunknown

(32 web hits)

RYR1 E3578Qinsufficiently evaluated noneunknown
RYR1 E3583Qinsufficiently evaluated none, f=0.013unknown CGI sample GS00253-DNA_G01_200_37
RYR1 E3689Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
RYR1 Q3751Einsufficiently evaluated not reviewedunknown
RYR1 Q3756Einsufficiently evaluated not reviewed, f=0.011unknown

(1 web hit)

CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_F02 from PGP sample 95788191
RYR1 P4496Linsufficiently evaluated noneunknown
RYR1 P4501Linsufficiently evaluated none, f=0.006unknown

(2 web hits)

var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
RYR1 D4505Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
RYR1 G4603Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
RYR1 A4611Dinsufficiently evaluated noneunknown
RYR1 A4616Dinsufficiently evaluated none, f=0.002unknown var-GS19129-1100-36-ASM
RYR1 N4627Dinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
RYR1 T4637Ainsufficiently evaluated pathogenicunknown

(21 web hits)

RYR1 Y4796Cinsufficiently evaluated pathogenicunknown

(49 web hits)

RYR1 T4826Ipathogenicdominant

Mutations in RYR1 leads to complete susceptibility to Malignant Hypothermia

(38 web hits)

RYR1 V4849Iinsufficiently evaluated pathogenicunknown

(39 web hits)

RYR1 R4861Hinsufficiently evaluated pathogenicunknown

(34 web hits)

RYR1 I4898Tinsufficiently evaluated pathogenicunknown

(134 web hits)

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Total results: 63

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