Variant Results

or

Results for "RYR2"

Variant Events: 110

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

RYR2

2-1567-004

chr1:
237389566-237389566

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

2-0158-003

chr1:
238002848-238002848

A

G

intergenic

De novo

-

Yuen2017 G

RYR2

1-0458-004

chr1:
237679033-237679033

C

CTGTTG

intronic

De novo

-

Yuen2017 G

RYR2

iHART2855

chr1:
237666806-237666806

G

A

splicing

Paternal

splicing

27.8

-

Ruzzo2019 G

RYR2

2-1581-003

chr1:
237895609-237895609

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

2-0110-003

chr1:
237332677-237332677

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RYR2

iHART2856

chr1:
237666806-237666806

G

A

splicing

Paternal

splicing

27.8

-

Ruzzo2019 G

RYR2

2-1294-003

chr1:
237232160-237232160

T

AA

intronic

De novo

-

Trost2022 G

RYR2

2-1294-003

chr1:
237232157-237232157

A

AGG

intronic

De novo

-

Trost2022 G

RYR2

7-0390-003

chr1:
237279600-237279600

C

T

intronic

De novo

-

Trost2022 G

RYR2

MT_170.3

chr1:
237254746-237254746

A

G

intronic

De novo

-

Trost2022 G

RYR2

MSSNG00359-003

chr1:
237206341-237206341

C

T

intronic

De novo

-

Trost2022 G

RYR2

2-1375-003

chr1:
237219779-237219779

A

G

intronic

De novo

-

Trost2022 G

RYR2

1-0144-005

chr1:
237219174-237219174

G

C

intronic

De novo

-

Trost2022 G

RYR2

2-1546-003

chr1:
237419481-237419482

GG

TCATGTCGCTTGTCTCACAT

intronic

De novo

-

Trost2022 G

RYR2

AU2140306

chr1:
237247196-237247196

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

AU2463301

chr1:
237406167-237406167

C

T

intronic

De novo

-

Trost2022 G

RYR2

3-0113-000

chr1:
237433585-237433585

C

T

intronic

De novo

-

Trost2022 G

RYR2

4-0026-003

chr1:
237428146-237428146

C

A

intronic

De novo

-

Trost2022 G

RYR2

DEASD_0115_001

chr1:
237870440-237870440

C

A

exonic

De novo

nonsynonymous SNV

NM_001035

c.C9772A

p.P3258T

13.93

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RYR2

5-0125-003

chr1:
237776993-237776993

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

2-0296-004

chr1:
237329388-237329389

GC

AA

intronic

De novo

-

Trost2022 G

RYR2

5-0009-003

chr1:
237289049-237289049

G

A

intronic

De novo

-

Trost2022 G

RYR2

722-04-103059

chr1:
237850735-237850736

TG

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

RYR2

4-0082-004

chr1:
237394432-237394432

A

G

intronic

De novo

-

Trost2022 G

RYR2

1-1005-004

chr1:
237331171-237331171

C

T

intronic

De novo

-

Trost2022 G

RYR2

MT_179.3

chr1:
237495447-237495447

G

A

intronic

De novo

-

Trost2022 G

RYR2

7-0458-003

chr1:
237481486-237481486

A

T

intronic

De novo

-

Trost2022 G

RYR2

1-0632-003

chr1:
237535539-237535553

AATGTGTTACATCAC

A

intronic

De novo

-

Trost2022 G

RYR2

REACH000323

chr1:
237497071-237497071

A

C

intronic

De novo

-

Trost2022 G

RYR2

1-0300-003

chr1:
237450189-237450189

T

AAAATTTGTTTTGTCTGATA

intronic

De novo

-

Trost2022 G

RYR2

3-0163-000

chr1:
237447007-237447007

T

C

intronic

De novo

-

Trost2022 G

RYR2

3-0713-000

chr1:
237467466-237467466

T

C

intronic

De novo

-

Trost2022 G

RYR2

MSSNG00439-004

chr1:
237466117-237466117

C

T

intronic

De novo

-

Trost2022 G

RYR2

1-0183-004

chr1:
237623589-237623589

G

A

intronic

De novo

-

Trost2022 G

RYR2

MSSNG00332-003

chr1:
237597068-237597068

T

C

intronic

De novo

-

Trost2022 G

RYR2

MSSNG00387-003

chr1:
237679231-237679231

C

T

intronic

De novo

-

Trost2022 G

RYR2

MSSNG00033-003

chr1:
237678483-237678483

C

T

intronic

De novo

-

Trost2022 G

RYR2

REACH000345

chr1:
237554327-237554327

C

T

intronic

De novo

-

Trost2022 G

RYR2

AU058105

chr1:
237399931-237399931

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

1-1134-003

chr1:
237552882-237552882

C

T

intronic

De novo

-

Trost2022 G

RYR2

MSSNG00109-005

chr1:
237582211-237582211

G

A

intronic

De novo

-

Trost2022 G

RYR2

4-0034-003

chr1:
237571694-237571694

A

T

intronic

De novo

-

Trost2022 G

RYR2

1-0259-005

chr1:
237471626-237471626

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

AU4234303

chr1:
237235217-237235217

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

SP0151003

chr1:
237765434-237765434

T

G

intronic

De novo

-

Trost2022 G

RYR2

3-0326-000

chr1:
237728381-237728381

A

G

intronic

De novo

-

Trost2022 G

RYR2

SP0221390

chr1:
237765437-237765437

T

G

intronic

De novo

-

Trost2022 G

RYR2

SP0221390

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

RYR2

7-0024-003

chr1:
237688542-237688542

G

TAA

intronic

De novo

-

Trost2022 G

RYR2

2-1644-003

chr1:
237679293-237679293

T

CCCTCTCCCTC

intronic

De novo

-

Trost2022 G

RYR2

REACH000525

chr1:
237709531-237709531

C

T

intronic

De novo

-

Trost2022 G

RYR2

AU2129303

chr1:
237301912-237301912

T

A

intronic

De novo

-

Yuen2017 G

RYR2

1-0627-005

chr1:
237689016-237689016

A

G

intronic

De novo

-

Trost2022 G

RYR2

AU2988303

chr1:
237879507-237879512

TAAAAA

TAAA

intronic

De novo

-

Yuen2017 G

RYR2

SSC09358

chr1:
237880456-237880456

G

A

intronic

De novo

-

Trost2022 G

RYR2

1-1063-004

chr1:
237874557-237874557

C

T

intronic

De novo

-

Trost2022 G

RYR2

1-0169-004

chr1:
237920338-237920338

C

T

intronic

De novo

-

Trost2022 G

RYR2

1-1223-003

chr1:
237898424-237898424

T

G

intronic

De novo

-

Trost2022 G

RYR2

REACH000419

chr1:
237802743-237802743

G

A

intronic

De novo

-

Trost2022 G

RYR2

AU2299301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

RYR2

MT_14.3

chr1:
237824033-237824033

T

G

intronic

De novo

-

Trost2022 G

RYR2

7-0484-003

chr1:
237811055-237811055

T

C

intronic

De novo

-

Trost2022 G

RYR2

AU2320301

chr1:
237973075-237973075

A

G

intronic

De novo

-

Trost2022 G

RYR2

AU066818

chr1:
237568489-237568489

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

2-1401-003

chr1:
237966871-237966871

A

G

intronic

De novo

-

Trost2022 G

RYR2

2-1467-003

chr1:
237953119-237953119

C

T

intronic

De novo

-

Trost2022 G

RYR2

1-0051-004

chr1:
237954798-237954798

A

C

exonic

De novo

nonsynonymous SNV

NM_001035

c.A13546C

p.I4516L

17.13

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

RYR2

4-0046-003

chr1:
237967608-237967611

CTTA

GAGCCACCGCGCCCGGC

intronic

De novo

-

Trost2022 G

RYR2

4-0046-004

chr1:
237967607-237967611

TCTTA

CCCGGC

intronic

De novo

-

Trost2022 G

RYR2

AU3368302

chr1:
237683815-237683815

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

AU027506

chr1:
237590350-237590350

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

1-0373-003

chr1:
237398985-237398985

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

AU2793301

chr1:
237689954-237689954

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

2-1577-003

chr1:
237965419-237965419

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

AU3794302

chr1:
237492203-237492203

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

1-0389-004

chr1:
237522812-237522812

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

SP0081029

chr1:
237886559-237886559

A

G

exonic

synonymous SNV

NM_001035

c.A10686G

p.E3562E

-

Zhou2022 GE

RYR2

SP0024564

chr1:
237824201-237824201

G

C

exonic

nonsynonymous SNV

NM_001035

c.G8390C

p.S2797T

14.14

-

Zhou2022 GE

RYR2

AU071804

chr1:
237456654-237456654

G

A

intronic

De novo

-

Yuen2017 G

RYR2

SP0128843

chr1:
237947092-237947092

C

T

exonic

nonsynonymous SNV

NM_001035

c.C12080T

p.T4027M

15.77

1.783E-5

Zhou2022 GE

RYR2

AU4215302

chr1:
237903974-237903974

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

SP0039893

chr1:
237817701-237817701

C

T

exonic

nonsynonymous SNV

NM_001035

c.C7952T

p.A2651V

35.0

-

Zhou2022 GE

RYR2

SP0144720

chr1:
237787114-237787114

C

G

exonic

nonsynonymous SNV

NM_001035

c.C5966G

p.P1989R

23.8

-

Zhou2022 GE

RYR2

7-0067-003

chr1:
237648977-237648977

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

AU3846303

chr1:
237443617-237443617

C

T

intronic

De novo

-

Yuen2017 G

RYR2

1946-23968

chr1:
237659974-237659974

G

A

exonic

Inherited

nonsynonymous SNV

NM_001035

c.G2125A

p.G709R

35.0

-

Callaghan2019 G

RYR2

1-0320-004

chr1:
237918758-237918758

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

11C119398

chr1:
237865361-237865361

T

A

splicing

De novo

splicing

19.88

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RYR2

SMHC01638s000

chr1:
237433903-237433903

C

A

exonic

De novo

nonsynonymous SNV

NM_001035

c.C155A

p.T52N

18.0

-

Yuan2023 E

RYR2

13894.p1

chr1:
237880456-237880456

G

A

intronic

De novo

-

Satterstrom2020 E

RYR2

1-0150-003

chr1:
237985370-237985370

G

A

intronic

De novo

-

Yuen2017 G

RYR2

AU3912303

chr1:
237270095-237270095

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

AU3368303

chr1:
237661806-237661806

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

13958.p1

chr1:
237666734-237666734

C

T

exonic

De novo

nonsynonymous SNV

NM_001035

c.C2542T

p.R848C

16.38

8.283E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RYR2

11042.p1

chr1:
237823274-237823275

CT

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

RYR2

AU3786301

chr1:
237882036-237882036

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

2-0307-004

chr1:
237442528-237442528

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

AU2793302

chr1:
237916270-237916270

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

A17

chr1:
237343785-237343785

A

C

intronic

De novo

-

Wu2018 G

RYR2

13958_p1

chr1:
237666734-237666734

C

T

exonic

De novo

nonsynonymous SNV

NM_001035

c.C2542T

p.R848C

16.38

8.283E-6

Fu2022 E

RYR2

10C109049

chr1:
237872378-237872378

T

G

exonic

De novo

nonsynonymous SNV

NM_001035

c.T10122G

p.I3374M

15.54

-

Fu2022 E

RYR2

Wang2023:481

chr1:
237617829-237617829

C

A

exonic

De novo

nonsynonymous SNV

NM_001035

c.C1431A

p.N477K

14.61

-

Wang2023 E

RYR2

1-0383-003

chr1:
237589033-237589050

TGAGGAGGAGGAGGAGGA

TGAGGAGGAGGAGGA

intronic

De novo

-

Yuen2017 G

RYR2

1-0579-003

chr1:
237795093-237795093

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

1-0965-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

RYR2

1-0751-003

chr1:
237631366-237631366

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RYR2

AU2293302

chr1:
237666806-237666806

G

A

splicing

Paternal

splicing

27.8

-

Cirnigliaro2023 G

RYR2

AU2293301

chr1:
237666806-237666806

G

A

splicing

Paternal

splicing

27.8

-

Cirnigliaro2023 G

RYR2

AU2988302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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