Variant Results

C

T

exonic

De novo

nonsynonymous SNV

NM_000834

c.G2087A

p.R696H

35.0

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GRIN2B

1-0412-003

chr12:
14184455-14184455

A

T

intergenic

De novo

-

Yuen2017 G

GRIN2B

Husson2020:136

chr12:
14019119-14019119

A

AG

exonic

frameshift insertion

NM_000834

c.23_24insC

p.C8fs

-

Husson2020 E

GRIN2B

M12312

chr12:
13717054-13717054

C

T

exonic

Maternal

nonsynonymous SNV

NM_000834

c.G3118A

p.G1040S

16.14

1.649E-5

Guo2018 T
Wang2016 T

GRIN2B

AU030703

C

A

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G286T

p.G96W

24.5

-

Stessman2017 T

GRIN2B

AU4306302

chr12:
14482997-14482997

G

A

intergenic

De novo

-

Yuen2017 G

GRIN2B

M12487

chr12:
13716489-13716489

G

A

exonic

Paternal

nonsynonymous SNV

NM_000834

c.C3683T

p.T1228M

0.251

3.298E-5

Guo2018 T
Wang2016 T

GRIN2B

M17613

chr12:
13716489-13716489

G

A

exonic

Paternal

nonsynonymous SNV

NM_000834

c.C3683T

p.T1228M

0.251

3.298E-5

Guo2018 T
Wang2016 T

GRIN2B

AU3853302

chr12:
13735124-13735124

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIN2B

G01-GEA-123-HI

chr12:
13717565-13717565

G

C

exonic

De novo

stopgain

NM_000834

c.C2607G

p.Y869X

41.0

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GRIN2B

7-0167-003

chr12:
13725273-13725273

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIN2B

SAGE_BK789-01

chr12:
13724849-13724849

G

A

exonic

De novo

nonsynonymous SNV

NM_000834

c.C2060T

p.P687L

34.0

-

Wang2020 T

GRIN2B

12681_p1

T

C

splicing

De novo

splicing

17.06

-

Fu2022 E

GRIN2B

M16260

chr12:
13715854-13715854

C

A

exonic

Maternal

nonsynonymous SNV

NM_000834

c.G4318T

p.A1440S

0.895

8.239E-6

Guo2018 T
Wang2016 T

GRIN2B

1-0162-004

chr12:
14201879-14201879

A

G

intergenic

De novo

-

Yuen2017 G

GRIN2B

A27

chr12:
14481761-14481761

T

G

intergenic

De novo

-

Wu2018 G

GRIN2B

M8862

chr12:
13716157-13716157

T

C

exonic

Unknown

nonsynonymous SNV

NM_000834

c.A4015G

p.M1339V

11.19

-

Wang2016 T

GRIN2B

1-0214-003

chr12:
14133666-14133666

G

A

upstream

De novo

-

Trost2022 G
Yuen2017 G

GRIN2B

ACGC_M20277

chr12:
13768147-13768147

G

A

exonic

De novo

stopgain

NM_000834

c.C1555T

p.R519X

40.0

8.24E-6

Wang2020 T

GRIN2B

1-0534-006

chr12:
14419294-14419294

A

C

intergenic

De novo

-

Yuen2017 G

GRIN2B

05C44735

chr12:
13768147-13768147

G

A

exonic

De novo

stopgain

NM_000834

c.C1555T

p.R519X

40.0

8.24E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GRIN2B

HEN0293.p1

chr12:
13761764-13761764

G

C

exonic

Paternal

nonsynonymous SNV

NM_000834

c.C1783G

p.P595A

15.91

8.298E-6

Guo2018 T

GRIN2B

JS0047.p1

chr12:
13716157-13716157

T

C

exonic

Paternal

nonsynonymous SNV

NM_000834

c.A4015G

p.M1339V

11.19

-

Guo2018 T

GRIN2B

Yamamoto2019:11

chr12:
13720107-13720107

T

C

exonic

De novo

nonsynonymous SNV

NM_000834

c.A2450G

p.N817S

26.4

-

Yamamoto2019 T

GRIN2B

HEN0329.p1

chr12:
13906263-13906263

T

C

exonic

Paternal

nonsynonymous SNV

NM_000834

c.A998G

p.N333S

10.57

1.647E-5

Guo2018 T

GRIN2B

5-0073-003

chr12:
14188837-14188837

C

T

intergenic

De novo

-

Yuen2017 G

GRIN2B

2-1620-003

chr12:
14497912-14497918

CTATGAT

C

intergenic

De novo

-

Yuen2017 G

GRIN2B

M12425

chr12:
13716667-13716667

C

T

exonic

Maternal, Unknown

nonsynonymous SNV

NM_000834

c.G3505A

p.G1169R

11.84

3.301E-5

Guo2018 T
Wang2016 T

GRIN2B

1-0494-003

chr12:
14419105-14419105

T

C

intergenic

De novo

-

Yuen2017 G

GRIN2B

HN0099.p1

chr12:
13906497-13906497

G

A

exonic

Paternal

nonsynonymous SNV

NM_000834

c.C764T

p.T255M

19.16

8.242E-6

Guo2018 T

GRIN2B

1-0986-003

chr12:
14143443-14143443

T

C

intergenic

De novo

-

Yuen2017 G

GRIN2B

GX0024.p1

chr12:
13717061-13717061

G

T

exonic

Paternal

nonsynonymous SNV

NM_000834

c.C3111A

p.D1037E

10.96

1.648E-5

Guo2018 T

GRIN2B

GX0485.p1

chr12:
13828782-13828782

T

C

exonic

Paternal

nonsynonymous SNV

NM_000834

c.A1022G

p.N341S

23.5

-

Guo2018 T

GRIN2B

GX0394.p1

chr12:
13717061-13717061

G

T

exonic

Paternal

nonsynonymous SNV

NM_000834

c.C3111A

p.D1037E

10.96

1.648E-5

Guo2018 T

GRIN2B

SAGE_559.03

T

C

splicing

De novo

splicing

17.06

-

Wang2020 T

GRIN2B

SP0017489

chr12:
13769373-13769373

T

G

intronic

De novo

-

Fu2022 E

GRIN2B

SP0109367

chr12:
13717381-13717381

C

T

exonic

De novo

nonsynonymous SNV

NM_000834

c.G2791A

p.V931I

0.198

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GRIN2B

12681.p1

T

C

splicing

De novo

splicing

17.06

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

GRIN2B

12547.p1

chr12:
13764762-13764762

C

T

exonic

De novo

stopgain

NM_000834

c.G1677A

p.W559X

41.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Willsey2013 E
Zhou2022 GE

GRIN2B

SP0048255

chr12:
13716277-13716277

G

A

exonic

De novo

nonsynonymous SNV

NM_000834

c.C3895T

p.R1299C

15.04

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GRIN2B

13932.p1

chr12:
13768560-13768560

C

T

exonic

De novo

nonsynonymous SNV

NM_000834

c.G1367A

p.C456Y

27.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

GRIN2B

11540.p1

chr12:
13848538-13848538

C

T

intronic

Mosaic

-

Dou2017 E

GRIN2B

SP0142921

chr12:
13761536-13761536

C

G

splicing

De novo

splicing

26.5

-

Fu2022 E
Zhou2022 GE

GRIN2B

11691.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_000834
NM_000834

c.99dupC
c.98dupC

p.S34fs
p.P33fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

GRIN2B

2-0013-003

chr12:
14419309-14419309

G

A

intergenic

De novo

-

Yuen2017 G

GRIN2B

M20615

chr12:
13769519-13769519

C

T

exonic

Paternal

nonsynonymous SNV

NM_000834

c.G1198A

p.E400K

13.8

-

Guo2018 T
Wang2016 T

GRIN2B

M20277

chr12:
13768147-13768147

G

A

exonic

De novo

stopgain

NM_000834

c.C1555T

p.R519X

40.0

8.24E-6

Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T

GRIN2B

SAGE_BK787-01

C

T

exonic

De novo

nonsynonymous SNV

NM_000834

c.G2087A

p.R696H

35.0

-

Wang2020 T

GRIN2B

AU3951301

chr12:
14323534-14323536

AAG

AAAGAG

intergenic

De novo

-

Yuen2017 G

GRIN2B

B9M7F

chr12:
13828767-13828767

C

T

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G1037A

p.G346E

29.1

-

Stessman2017 T

GRIN2B

ACGC_SX0065.p1

C

T

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G2087A

p.R696H

35.0

-

Wang2020 T

GRIN2B

SP0017047

chr12:
13717441-13717441

G

A

exonic

De novo

synonymous SNV

NM_000834

c.C2731T

p.L911L

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

GRIN2B

08C77366

chr12:
13768467-13768467

C

G

exonic

De novo

nonsynonymous SNV

NM_000834

c.G1460C

p.G487A

32.0

-

Stessman2017 T

GRIN2B

5-0025-004

chr12:
14472241-14472241

T

C

intergenic

De novo

-

Yuen2017 G

GRIN2B

2-0307-003

chr12:
14047382-14047382

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIN2B

Mahjani2021:35

chr12:
13719963-13719963

C

CTGAT

exonic

frameshift insertion

NM_000834

c.2593_2594insATCA

p.S865fs

-

Mahjani2021 E

GRIN2B

2-1508-003

chr12:
14148783-14148783

A

G

intergenic

De novo

-

Yuen2017 G

GRIN2B

Mahjani2021:36

chr12:
13720137-13720137

T

TCATTCTTCTCA

exonic

frameshift insertion

NM_000834

c.2419_2420insTGAGAAGAATG

p.E807fs

-

Mahjani2021 E

GRIN2B

SSC05465

T

C

splicing

17.06

-

Antaki2022 GE

GRIN2B

Mahjani2021:46

chr12:
13724865-13724865

G

A

exonic

nonsynonymous SNV

NM_000834

c.C2044T

p.R682C

34.0

-

Mahjani2021 E

GRIN2B

SP0010540

chr12:
13761545-13761545

C

T

exonic

De novo

nonsynonymous SNV

NM_000834

c.G2002A

p.D668N

34.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

GRIN2B

SP0070933

chr12:
13724853-13724853

C

T

exonic

De novo

nonsynonymous SNV

NM_000834

c.G2056A

p.V686M

33.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

GRIN2B

M21987

chr12:
13717337-13717337

G

C

exonic

Paternal, Unknown

nonsynonymous SNV

NM_000834

c.C2835G

p.D945E

16.28

-

Guo2018 T
Wang2016 T

GRIN2B

Mahjani2021:41

C

T

exonic

nonsynonymous SNV

NM_000834

c.G2087A

p.R696H

35.0

-

Mahjani2021 E

GRIN2B

mAGRE5751

chr12:
13768467-13768467

C

G

exonic

De novo

nonsynonymous SNV

NM_000834

c.G1460C

p.G487A

32.0

-

Cirnigliaro2023 G

GRIN2B

1-0651-003

chr12:
14439380-14439380

C

T

intergenic

De novo

-

Yuen2017 G

GRIN2B

Mahjani2021:48

chr12:
13769581-13769581

C

T

exonic

stopgain

NM_000834

c.G1136A

p.W379X

40.0

-

Mahjani2021 E

GRIN2B

SP0059887

chr12:
13768490-13768490

G

T

exonic

De novo

stopgain

NM_000834

c.C1437A

p.Y479X

40.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

GRIN2B

Mahjani2021:47

chr12:
13768083-13768083

C

T

exonic

nonsynonymous SNV

NM_000834

c.G1619A

p.R540H

29.6

-

Mahjani2021 E

GRIN2B

SSC06040

chr12:
13764762-13764762

C

T

exonic

De novo

stopgain

NM_000834

c.G1677A

p.W559X

41.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G

GRIN2B

SSC02952

chr12:
14019043-14019043

T

TG

exonic

frameshift insertion

NM_000834

c.99dupC

p.S34fs

-

Antaki2022 GE

GRIN2B

SSC10172

chr12:
13768560-13768560

C

T

exonic

De novo

nonsynonymous SNV

NM_000834

c.G1367A

p.C456Y

27.6

-

Antaki2022 GE
Trost2022 G

GRIN2B

Leuven2_66295205

chr12:
13717308-13717310

TCA

T

exonic

Unknown

frameshift deletion

NM_000834

c.2862_2863del

p.C954fs

-

Wang2020 T

GRIN2B

Leuven_150281

chr12:
13906250-13906250

C

T

splicing

Unknown

splicing

22.9

-

Wang2020 T

GRIN2B

M12406

chr12:
14019049-14019049

G

T

exonic

Maternal

nonsynonymous SNV

NM_000834

c.C94A

p.P32T

12.42

-

Guo2018 T
Wang2016 T

GRIN2B

Leuven_73101263

chr12:
13720163-13720163

A

ACATTGTGACAAATGCCA

exonic

Unknown

frameshift insertion

NM_000834

c.2393_2394insTGGCATTTGTCACAATG

p.T798fs

-

Wang2020 T

GRIN2B

GX0019.p1

chr12:
14019115-14019115

G

A

exonic

Maternal

nonsynonymous SNV

NM_000834

c.C28T

p.P10S

14.61

-

Guo2018 T

GRIN2B

Leuven_185718

chr12:
13764658-13764658

C

T

splicing

Unknown

splicing

34.0

-

Wang2020 T

GRIN2B

Leuven_74764077

chr12:
13768132-13768132

C

T

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G1570A

p.D524N

36.0

-

Wang2020 T

GRIN2B

12175.p1

chr12:
14330773-14330773

G

T

intergenic

De novo

-

Turner2016 G

GRIN2B

13298.p1

chr12:
14036159-14036159

G

A

intronic

De novo

-

Turner2016 G

GRIN2B

12175.p1

chr12:
14330770-14330770

T

G

intergenic

De novo

-

Turner2016 G

GRIN2B

1-0395-003

chr12:
14427878-14427878

T

C

intergenic

De novo

-

Yuen2017 G

GRIN2B

1-0539-003

chr12:
13966812-13966812

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIN2B

SAGE_BK_662_01

chr12:
13761545-13761545

C

A

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G2002T

p.D668Y

25.3

-

Wang2020 T

GRIN2B

AGRE_AU030703

C

A

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G286T

p.G96W

24.5

-

Wang2020 T

GRIN2B

Greenwood_Cms23857

chr12:
13768146-13768146

C

T

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G1556A

p.R519Q

37.0

-

Wang2020 T

GRIN2B

ACGC_GD0231.p1

chr12:
13768083-13768083

C

T

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G1619A

p.R540H

29.6

-

Wang2020 T

GRIN2B

AGRE_04C24300

C

A

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G286T

p.G96W

24.5

-

Wang2020 T

GRIN2B

Leuven2_73101263

chr12:
13720146-13720146

T

TCATTGTGACAAATGCCA

exonic

Unknown

frameshift insertion

NM_000834

c.2410_2411insTGGCATTTGTCACAATG

p.E804fs

-

Wang2020 T

GRIN2B

2-1444-003

chr12:
13815101-13815101

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GRIN2B

04C24300

C

A

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G286T

p.G96W

24.5

-

Stessman2017 T

GRIN2B

SanDiego_B9M7F

chr12:
13828767-13828767

C

T

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G1037A

p.G346E

29.1

-

Wang2020 T

GRIN2B

SAGE_549.03

chr12:
13768560-13768560

C

T

exonic

Unknown

nonsynonymous SNV

NM_000834

c.G1367A

p.C456Y

27.6

-

Wang2020 T

GRIN2B

SAGE_BK_642.01

chr12:
13716735-13716735

C

T

exonic

Unknown

stopgain

NM_000834

c.G3437A

p.W1146X

41.0

-

Wang2020 T

GRIN2B

150281

chr12:
13906250-13906250

C

T

splicing

Inherited

splicing

22.9

-

Stessman2017 T

GRIN2B

SP0237868

chr12:
13906723-13906723

G

A

exonic

stopgain

NM_000834

c.C538T

p.Q180X

39.0

-

Zhou2022 GE

GRIN2B

AU047703

chr12:
13950399-13950399

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIN2B

SP0352072

chr12:
13768146-13768146

C

T

exonic

nonsynonymous SNV

NM_000834

c.G1556A

p.R519Q

37.0

-

Zhou2022 GE

GRIN2B

AU3692302

chr12:
14316268-14316268

C

A

intergenic

De novo

-

Yuen2017 G

GRIN2B

SP0177846

chr12:
13720180-13720180

C

T

exonic

nonsynonymous SNV

NM_000834

c.G2377A

p.E793K

33.0

-

Zhou2022 GE

GRIN2B

Kenny2014:6

chr12:
13724778-13724778

G

A

exonic

Unknown

stopgain

NM_000834

c.C2131T

p.Q711X

42.0

-

Kenny2014 T

GRIN2B

M16114

chr12:
13715902-13715902

G

A

exonic

Maternal

nonsynonymous SNV

NM_000834

c.C4270T

p.L1424F

8.686

2.476E-5

Guo2018 T
Wang2016 T

GRIN2B

SP0264509

chr12:
13716406-13716406

C

T

exonic

nonsynonymous SNV

NM_000834

c.G3766A

p.E1256K

22.2

-

Zhou2022 GE

GRIN2B

SP0157716

chr12:
13761710-13761710

C

T

exonic

De novo

nonsynonymous SNV

NM_000834

c.G1837A

p.V613M

29.1

-

Trost2022 G
Zhou2022 GE

GRIN2B

185718

chr12:
13764658-13764658

C

T

splicing

Inherited

splicing

34.0

-

Stessman2017 T

GRIN2B

SP0320116

C

T

exonic

nonsynonymous SNV

NM_000834

c.G2087A

p.R696H

35.0

-

Zhou2022 GE

GRIN2B

M15056

chr12:
13715916-13715916

G

A

exonic

Maternal

nonsynonymous SNV

NM_000834

c.C4256T

p.P1419L

14.84

8.26E-6

Guo2018 T
Wang2016 T

GRIN2B

M3803

chr12:
13716156-13716156

A

G

exonic

Maternal

nonsynonymous SNV

NM_000834

c.T4016C

p.M1339T

12.0

-

Wang2016 T

GRIN2B

2-1485-003

chr12:
14419082-14419082

A

G

intergenic

De novo

-

Yuen2017 G

GRIN2B

ASD046

chr12:
13722914-13722914

T

TC

exonic

De novo

frameshift insertion

NM_000834

c.2208dupG

p.N737fs

-

Tran2020 E
Wu2019 E

GRIN2B

MAC880

chr12:
13906566-13906566

C

T

exonic

De novo

nonsynonymous SNV

NM_000834

c.G695A

p.C232Y

21.8

-

Fu2022 E

GRIN2B

7-0456-003

chr12:
13790450-13790450

A

G

intronic

De novo

-

Trost2022 G

GRIN2B

A1334B

chr12:
14019043-14019043

T

TG

exonic

De novo

frameshift insertion

NM_000834

c.99dupC

p.S34fs

-

Fu2022 E

GRIN2B

AU2283301

chr12:
13815503-13815503

G

T

intronic

De novo

-

Trost2022 G

GRIN2B

7-0048-003

chr12:
13750949-13750949

C

T

intronic

De novo

-

Trost2022 G

GRIN2B

AU2604301

chr12:
13759325-13759325

T

A

intronic

De novo

-

Trost2022 G

GRIN2B

MT_31.3

chr12:
13745168-13745168

G

A

intronic

De novo

-

Trost2022 G

GRIN2B

A21

chr12:
14393717-14393717

C

T

intergenic

De novo

-

Wu2018 G

GRIN2B

7-0388-003

chr12:
13747338-13747338

C

T

intronic

De novo

-

Trost2022 G

GRIN2B

5902

chr12:
14019043-14019043

T

TG

exonic

De novo

frameshift insertion

NM_000834

c.99dupC

p.S34fs

-