Variant Results

or

Results for "CHD2"

Variant Events: 85

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

CHD2

13073.p1

chr15:
93467760-93467760

A

G

exonic

Mosaic

nonsynonymous SNV

NM_001042572
NM_001271

c.A272G
c.A272G

p.E91G
p.E91G

16.16

-

Krupp2017 E

CHD2

M18930

chr15:
93543766-93543766

C

T

exonic

Paternal, Unknown

nonsynonymous SNV

NM_001271

c.C4033T

p.R1345W

25.3

-

Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T

CHD2

09C80382

chr15:
93521585-93521585

G

A

exonic

De novo

nonsynonymous SNV

NM_001271

c.G2699A

p.R900Q

36.0

-

Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T

CHD2

Stessman2017:ASD_1285

chr15:
93482923-93482923

C

T

exonic

Unknown

nonsynonymous SNV

NM_001042572
NM_001271

c.C667T
c.C667T

p.R223C
p.R223C

24.5

2.474E-5

Stessman2017 T

CHD2

M30934

chr15:
93527730-93527730

G

T

exonic

De novo

nonsynonymous SNV

NM_001271

c.G3237T

p.K1079N

17.81

-

Guo2018 T

CHD2

226-09-111366

chr15:
93521659-93521659

A

G

intronic

De novo

-

Satterstrom2020 E

CHD2

M20277

chr15:
93482850-93482850

G

C

exonic

Maternal

nonsynonymous SNV

NM_001042572
NM_001271

c.G594C
c.G594C

p.Q198H
p.Q198H

17.51

4.943E-5

Guo2018 T
Wang2016 T

CHD2

M20684

chr15:
93496650-93496650

C

G

exonic

Maternal

nonsynonymous SNV

NM_001271

c.C1566G

p.F522L

16.3

-

Guo2018 T
Wang2016 T

CHD2

M12327

chr15:
93467570-93467570

G

A

exonic

Maternal, Unknown

nonsynonymous SNV

NM_001042572
NM_001271

c.G82A
c.G82A

p.A28T
p.A28T

17.06

-

Guo2018 T
Wang2016 T

CHD2

SSC06347

chr15:
93467760-93467760

A

G

exonic

Mosaic

nonsynonymous SNV

NM_001042572
NM_001271

c.A272G
c.A272G

p.E91G
p.E91G

16.16

-

Lim2017 E

CHD2

M12422

chr15:
93528788-93528788

G

C

exonic

Maternal

nonsynonymous SNV

NM_001271

c.G3298C

p.A1100P

17.64

4.124E-5

Wang2016 T

CHD2

215-13101-1183

chr15:
93552420-93552420

G

A

exonic

De novo

nonsynonymous SNV

NM_001271

c.G4459A

p.D1487N

35.0

-

Stessman2017 T

CHD2

1-0221-003

chr15:
93521602-93521602

C

T

exonic

De novo

stopgain

NM_001271

c.C2716T

p.Q906X

27.2

-

Wang2020 T

CHD2

AU015203

chr15:
93567810-93567810

C

T

exonic

Unknown

nonsynonymous SNV

NM_001271

c.C5362T

p.R1788C

20.7

2.484E-5

Stessman2017 T
Wang2020 T
Wang2020 T

CHD2

Husson2020:382

chr15:
93486240-93486245

GTGAAG

G

exonic

frameshift deletion

NM_001042572
NM_001271

c.995_999del
c.995_999del

p.V332fs
p.V332fs

-

Husson2020 E

CHD2

M17596

chr15:
93486100-93486100

C

T

exonic

Paternal

nonsynonymous SNV

NM_001042572
NM_001271

c.C854T
c.C854T

p.A285V
p.A285V

16.21

8.292E-5

Guo2018 T
Wang2016 T

CHD2

M20398

chr15:
93528788-93528788

G

C

exonic

Unknown

nonsynonymous SNV

NM_001271

c.G3298C

p.A1100P

17.64

4.124E-5

Wang2016 T

CHD2

00287-G8V4L

chr15:
93444475-93444479

GAAAT

G

exonic

Unknown

frameshift deletion

NM_001042572
NM_001271

c.9_12del
c.9_12del

p.R3fs
p.R3fs

-

Wang2020 T
Wang2020 T

CHD2

SP0045640

chr15:
93540530-93540530

G

A

exonic

De novo

stopgain

NM_001271

c.G3782A

p.W1261X

49.0

-

Feliciano2019 E

CHD2

193_3_a.2.1

chr15:
93489303-93489303

G

A

exonic

Unknown

nonsynonymous SNV

NM_001042572
NM_001271

c.G1234A
c.G1234A

p.E412K
p.E412K

36.0

-

Wang2020 T
Wang2020 T

CHD2

192029

chr15:
93480818-93480819

CA

C

exonic

Unknown

frameshift deletion

NM_001042572
NM_001271

c.515delA
c.515delA

p.Q172fs
p.Q172fs

-

3.0E-4

Wang2020 T
Wang2020 T

CHD2

60700775

chr15:
93486180-93486180

A

T

exonic

Unknown

stopgain

NM_001042572
NM_001271

c.A934T
c.A934T

p.K312X
p.K312X

46.0

-

Wang2020 T
Wang2020 T

CHD2

ASD

chr15:
93482923-93482923

C

T

exonic

Unknown

nonsynonymous SNV

NM_001042572
NM_001271

c.C667T
c.C667T

p.R223C
p.R223C

24.5

2.474E-5

Wang2020 T
Wang2020 T

CHD2

M23690

chr15:
93567783-93567783

C

G

exonic

Paternal

nonsynonymous SNV

NM_001271

c.C5335G

p.P1779A

7.674

4.14E-5

Guo2018 T
Wang2016 T

CHD2

215-13023-0303

chr15:
93563256-93563256

C

T

exonic

De novo

stopgain

NM_001271

c.C4921T

p.Q1641X

49.0

-

O’Roak2014 T
Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T

CHD2

M17542

chr15:
93496635-93496635

C

G

exonic

Paternal

nonsynonymous SNV

NM_001271

c.C1551G

p.I517M

18.34

-

Guo2018 T
Wang2016 T

CHD2

214-17028-1

chr15:
93543758-93543758

G

A

exonic

Unknown

nonsynonymous SNV

NM_001271

c.G4025A

p.R1342Q

35.0

6.664E-5

Wang2020 T

CHD2

62561782

chr15:
93470506-93470506

C

G

exonic

Unknown

synonymous SNV

NM_001042572
NM_001271

c.C327G
c.C327G

p.V109V
p.V109V

-

8.281E-6

Wang2020 T
Wang2020 T

CHD2

M13398

chr15:
93528788-93528788

G

C

exonic

Paternal

nonsynonymous SNV

NM_001271

c.G3298C

p.A1100P

17.64

4.124E-5

Wang2016 T

CHD2

309.03

chr15:
93528836-93528836

C

T

exonic

Unknown

nonsynonymous SNV

NM_001271

c.C3346T

p.R1116C

27.4

8.249E-6

Wang2020 T
Wang2020 T

CHD2

GX0321.p1

chr15:
93482850-93482850

G

C

exonic

Paternal

nonsynonymous SNV

NM_001042572
NM_001271

c.G594C
c.G594C

p.Q198H
p.Q198H

17.51

4.943E-5

Guo2018 T

CHD2

08C73996

chr15:
93552420-93552420

G

A

exonic

De novo

nonsynonymous SNV

NM_001271

c.G4459A

p.D1487N

35.0

-

Satterstrom2020 E

CHD2

GX0026.p1

chr15:
93467733-93467733

C

G

exonic

Paternal

nonsynonymous SNV

NM_001042572
NM_001271

c.C245G
c.C245G

p.A82G
p.A82G

16.73

8.241E-6

Guo2018 T

CHD2

T3A5L

chr15:
93482851-93482851

C

T

exonic

Unknown

nonsynonymous SNV

NM_001042572
NM_001271

c.C595T
c.C595T

p.R199C
p.R199C

25.1

2.471E-5

Stessman2017 T
Wang2020 T
Wang2020 T

CHD2

GX0036.p1

chr15:
93547866-93547866

A

G

exonic

Paternal

nonsynonymous SNV

NM_001271

c.A4298G

p.K1433R

28.6

-

Guo2018 T

CHD2

1-0559-004

chr15:
93491959-93491959

C

T

intronic

De novo

-

Yuen2017 G

CHD2

GX0393.p1

chr15:
93487683-93487683

A

G

exonic

Paternal

nonsynonymous SNV

NM_001042572
NM_001271

c.A1091G
c.A1091G

p.N364S
p.N364S

14.71

3.0E-4

Guo2018 T

CHD2

Mahjani2021:75

chr15:
93541780-93541780

C

T

exonic

stopgain

NM_001271

c.C3937T

p.R1313X

47.0

-

Mahjani2021 E

CHD2

2-1342-003

chr15:
93570208-93570208

G

A

UTR3

De novo

-

Yuen2016 G
Yuen2017 G

CHD2

M03953

chr15:
93486100-93486100

C

C/T

exonic

Paternal

-

Guo2018 T

CHD2

HEN0103.p1

chr15:
93567807-93567807

C

A

exonic

Paternal

nonsynonymous SNV

NM_001271

c.C5359A

p.P1787T

21.6

-

Guo2018 T

CHD2

GX0516.p1

chr15:
93567648-93567648

C

G

exonic

Paternal

nonsynonymous SNV

NM_001271

c.C5200G

p.Q1734E

13.71

-

Guo2018 T

CHD2

HEN0362.p1

chr15:
93518107-93518107

A

G

splicing

De novo

splicing

24.0

-

Guo2018 T
Wang2020 T
Wang2020 T

CHD2

Z2T2M

chr15:
93563464-93563464

G

A

exonic

Inherited, Unknown

nonsynonymous SNV

NM_001271

c.G5129A

p.R1710Q

35.0

-

Stessman2017 T
Wang2020 T
Wang2020 T

CHD2

M15237

chr15:
93540500-93540500

G

A

exonic

Paternal

nonsynonymous SNV

NM_001271

c.G3752A

p.R1251H

14.73

1.648E-5

Guo2018 T
Wang2016 T

CHD2

M23688

chr15:
93563389-93563389

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_001271

c.G5054A

p.R1685H

36.0

8.24E-6

Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T

CHD2

2-0713-003

chr15:
93552284-93552284

G

A

intronic

De novo

-

Yuen2017 G

CHD2

Yamamoto2019:3

chr15:
93541774-93541774

C

T

exonic

De novo

stopgain

NM_001271

c.C3931T

p.Q1311X

48.0

-

Yamamoto2019 T

CHD2

JASD_Fam0016

chr15:
93510727-93510727

C

T

exonic

De novo

stopgain

NM_001271

c.C2173T

p.Q725X

47.0

-

Takata2018 E

CHD2

M15107

chr15:
93567680-93567680

G

A

exonic

Paternal

nonsynonymous SNV

NM_001271

c.G5232A

p.M1744I

17.49

3.316E-5

Wang2016 T

CHD2

JASD_Fam0011

chr15:
93485051-93485051

G

T

splicing

De novo

splicing

23.9

-

Takata2018 E

CHD2

M21465

chr15:
93567680-93567680

G

A

exonic

Paternal

nonsynonymous SNV

NM_001271

c.G5232A

p.M1744I

17.49

3.316E-5

Wang2016 T

CHD2

Yamamoto2019:4

chr15:
93485051-93485051

G

T

splicing

De novo

splicing

23.9

-

Yamamoto2019 T

CHD2

256278

Complex Event; expand row to view variants

Inherited, Unknown

frameshift deletion

NM_001042572
NM_001271
NM_001042572
NM_001271

c.1225delA
c.1225delA
c.1224delA
c.1224delA

p.N409fs
p.N409fs
p.S408fs
p.S408fs

-

Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T

CHD2

1-0367-003

chr15:
93479148-93479148

G

A

intronic

De novo

-

Yuen2017 G

CHD2

1-0862-003

chr15:
93559818-93559818

A

G

intronic

De novo

-

Yuen2017 G

CHD2

SF0001493.p1

chr15:
93522377-93522377

C

T

exonic

De novo

nonsynonymous SNV

NM_001271

c.C2740T

p.R914C

32.0

-

Wang2020 T

CHD2

SF0103757.p1

chr15:
93521588-93521588

C

G

exonic

De novo

nonsynonymous SNV

NM_001271

c.C2702G

p.A901G

32.0

-

Wang2020 T

CHD2

SF0045451.p1

chr15:
93552516-93552516

G

A

exonic

De novo

nonsynonymous SNV

NM_001271

c.G4555A

p.A1519T

13.93

-

Wang2020 T

CHD2

SF0110352.p2

chr15:
93486256-93486256

A

C

exonic

De novo

nonsynonymous SNV

NM_001042572
NM_001271

c.A1010C
c.A1010C

p.K337T
p.K337T

26.4

-

Wang2020 T

CHD2

MS134

chr15:
93498741-93498742

AG

A

exonic

De novo

frameshift deletion

NM_001271

c.1809delG

p.K603fs

-

O’Roak2014 T

CHD2

SF0006321.p1

chr15:
93486234-93486234

C

T

exonic

De novo

stopgain

NM_001042572
NM_001271

c.C988T
c.C988T

p.Q330X
p.Q330X

45.0

-

Wang2020 T

CHD2

13614.p1

chr15:
93563244-93563244

C

T

exonic

De novo

stopgain

NM_001271

c.C4909T

p.R1637X

49.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G

CHD2

SF0141034.p1

chr15:
93521585-93521585

G

A

exonic

De novo

nonsynonymous SNV

NM_001271

c.G2699A

p.R900Q

36.0

-

Wang2020 T

CHD2

13818.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001271
NM_001271

c.4948dupG
c.4948dupG

p.G1649fs
p.G1650fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T

CHD2

2-1456-004

chr15:
93545485-93545485

A

G

exonic

De novo

nonsynonymous SNV

NM_001271

c.A4216G

p.S1406G

10.04

-

Wang2020 T
Yuen2017 G

CHD2

SF0040833.p1

chr15:
93489375-93489375

A

T

exonic

De novo

stopgain

NM_001042572
NM_001271

c.A1306T
c.A1306T

p.K436X
p.K436X

44.0

-

Wang2020 T

CHD2

HN0146.p1

chr15:
93499791-93499791

T

C

exonic

Maternal

nonsynonymous SNV

NM_001271

c.T1912C

p.S638P

29.0

-

Guo2018 T

CHD2

13618.p1

chr15:
93524060-93524064

TAAAG

T

exonic

De novo

frameshift deletion

NM_001271

c.2893_2896del

p.K965fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G

CHD2

AU3720302

chr15:
93476721-93476721

C

G

intronic

De novo

-

Yuen2017 G

CHD2

HEN0219.p1

chr15:
93555667-93555667

A

C

exonic

Maternal

nonsynonymous SNV

NM_001271

c.A4685C

p.E1562A

20.3

-

Guo2018 T

CHD2

AU3632301

chr15:
93524348-93524348

G

T

intronic

De novo

-

Yuen2017 G

CHD2

M20668

chr15:
93567680-93567680

G

A

exonic

Maternal

nonsynonymous SNV

NM_001271

c.G5232A

p.M1744I

17.49

3.316E-5

Wang2016 T

CHD2

GX0276.p1

chr15:
93482850-93482850

G

C

exonic

Maternal

nonsynonymous SNV

NM_001042572
NM_001271

c.G594C
c.G594C

p.Q198H
p.Q198H

17.51

4.943E-5

Guo2018 T

CHD2

M30955

chr15:
93467610-93467610

A

G

exonic

Maternal

nonsynonymous SNV

NM_001042572
NM_001271

c.A122G
c.A122G

p.Q41R
p.Q41R

16.45

-

Guo2018 T

CHD2

Uddin2014:33

chr15:
93518170-93518170

A

G

exonic

De novo

nonsynonymous SNV

NM_001271

c.A2567G

p.D856G

19.58

-

Uddin2014 E

CHD2

08C72540

chr15:
93563256-93563256

C

T

exonic

De novo

stopgain

NM_001271

c.C4921T

p.Q1641X

49.0

-

Satterstrom2020 E

CHD2

AU1056302

chr15:
93552444-93552444

G

A

exonic

De novo

nonsynonymous SNV

NM_001271

c.G4483A

p.V1495M

32.0

8.256E-6

Wang2020 T
Wang2020 T

CHD2

10C100480

chr15:
93518170-93518170

A

G

exonic

De novo

nonsynonymous SNV

NM_001271

c.A2567G

p.D856G

19.58

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T

CHD2

DEASD_0193_001

chr15:
93524620-93524620

G

A

exonic

De novo

nonsynonymous SNV

NM_001271

c.G2999A

p.R1000Q

19.26

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T

CHD2

DEASD_0174_001

chr15:
93536154-93536154

G

A

exonic

De novo

nonsynonymous SNV

NM_001271

c.G3521A

p.G1174D

35.0

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T

CHD2

AU075803

chr15:
93447754-93447754

C

T

intronic

De novo

-

Yuen2017 G

CHD2

M31820

chr15:
93540268-93540268

A

C

exonic

Maternal

nonsynonymous SNV

NM_001271

c.A3677C

p.E1226A

18.75

-

Guo2018 T

CHD2

GX0497.p1

chr15:
93489283-93489283

C

T

exonic

Maternal

nonsynonymous SNV

NM_001042572
NM_001271

c.C1214T
c.C1214T

p.P405L
p.P405L

15.69

1.0E-4

Guo2018 T

CHD2

M30916

chr15:
93543769-93543769

G

T

exonic

Maternal

nonsynonymous SNV

NM_001271

c.G4036T

p.V1346L

13.91

4.958E-5

Guo2018 T

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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