Variant Results

A

AAGTGGTACAC

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

1-0175-003

A

AAGTGGTACAC

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

AU2485305

chr12:
66784891-66784891

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

AU2787301

chr12:
67053696-67053696

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

2-1737-003

chr12:
66909740-66909740

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

7-0183-003

chr12:
66875441-66875441

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

REACH000159

chr12:
66765743-66765743

A

G

intronic

De novo

-

Trost2022 G

GRIP1

1-0182-003

chr12:
66771575-66771575

T

A

intronic

De novo

-

Trost2022 G

GRIP1

1-0465-003A

chr12:
66748766-66748766

T

G

intronic

De novo

-

Trost2022 G

GRIP1

1-0465-003a

chr12:
66748766-66748766

T

G

intronic

De novo

-

Yuen2017 G

GRIP1

5-5233-003

chr12:
66760720-66760720

T

G

intronic

De novo

-

Trost2022 G

GRIP1

2-1275-003

chr12:
67387291-67387291

C

T

intergenic

De novo

-

Yuen2017 G

GRIP1

SP0099417

chr12:
66743069-66743069

A

G

intronic

De novo

-

Trost2022 G

GRIP1

09C86232A

chr12:
66911807-66911807

A

T

intronic

De novo

-

5.885E-5

Kosmicki2017 E

GRIP1

1-0252-003

chr12:
66933243-66933243

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

P6Q4Z_01

chr12:
66744890-66744890

T

G

intronic

De novo

-

Trost2022 G

GRIP1

3-0221-000

chr12:
66865315-66865315

A

C

intronic

De novo

-

Trost2022 G

GRIP1

MT_179.3

chr12:
66870781-66870781

C

A

intronic

De novo

-

Trost2022 G

GRIP1

1-0368-004

chr12:
67243616-67243616

C

G

intergenic

De novo

-

Yuen2017 G

GRIP1

1-0826-003

chr12:
66827202-66827202

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

1-0150-004

chr12:
66821869-66821869

T

TAGGA

intronic

De novo

-

Trost2022 G

GRIP1

2-1441-003

chr12:
67122157-67122157

T

C

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GRIP1

7-0078-003

chr12:
66999759-66999759

T

C

intronic

De novo

-

Yuen2017 G

GRIP1

1-1119-003

chr12:
66863743-66863743

C

G

intronic

De novo

-

Trost2022 G

GRIP1

1-0864-003

chr12:
66817531-66817531

A

G

intronic

De novo

-

Trost2022 G

GRIP1

1-0150-004

chr12:
66821865-66821867

ATC

GTGACA

intronic

De novo

-

Trost2022 G

GRIP1

SP0179339

chr12:
66788092-66788092

C

A

exonic

De novo

nonsynonymous SNV

NM_001178074
NM_021150

c.G1869T
c.G1869T

p.E623D
p.E623D

19.72

-

Trost2022 G

GRIP1

7-0389-003

chr12:
66797564-66797564

G

A

intronic

De novo

-

Trost2022 G

GRIP1

1-0410-003

A

AAGTGGTACAC

intronic

De novo

-

Trost2022 G

GRIP1

3-0058-000

A

AAGTGGTACAC

intronic

De novo

-

Trost2022 G

GRIP1

REACH000229

chr12:
66886271-66886271

G

A

intronic

De novo

-

Trost2022 G

GRIP1

2-0244-003

A

AAGTGGTACAC

intronic

De novo

-

Trost2022 G

GRIP1

14404.p1

chr12:
67127944-67127944

A

C

intergenic

De novo

-

Wilfert2021 G

GRIP1

3-0312-000

chr12:
66876368-66876368

G

A

intronic

De novo

-

Trost2022 G

GRIP1

2-1740-003

chr12:
66882854-66882854

G

A

intronic

De novo

-

Trost2022 G

GRIP1

MT_179.3

chr12:
66870785-66870785

A

G

intronic

De novo

-

Trost2022 G

GRIP1

11045.p1

chr12:
66747209-66747209

G

T

exonic

Mosaic

nonsynonymous SNV

NM_001178074
NM_021150

c.C2946A
c.C2991A

p.D982E
p.D997E

19.09

-

Dou2017 E

GRIP1

MSSNG00361-004

chr12:
66873914-66873914

T

G

intronic

De novo

-

Trost2022 G

GRIP1

1-0633-003

chr12:
67039522-67039522

T

C

intronic

De novo

-

Trost2022 G

GRIP1

5-0009-003

chr12:
67065170-67065170

C

T

intronic

De novo

-

Trost2022 G

GRIP1

AU4327303

chr12:
67094258-67094258

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

2-1238-003

chr12:
66969642-66969642

C

T

intronic

De novo

-

Trost2022 G

GRIP1

PN400412

chr12:
66839124-66839124

C

T

exonic

Unknown

nonsynonymous SNV

NM_001178074
NM_021150

c.G1363A
c.G1363A

p.E455K
p.E455K

24.6

4.969E-5

Leblond2019 E

GRIP1

MSSNG00421-006

chr12:
67005005-67005005

G

A

intronic

De novo

-

Trost2022 G

GRIP1

1-0714-003

chr12:
66915716-66915716

C

T

intronic

De novo

-

Trost2022 G

GRIP1

4-0062-003

chr12:
66947119-66947120

TC

CT

intronic

De novo

-

Trost2022 G

GRIP1

1-0269-003

chr12:
66906338-66906345

GTTTTTAT

AAAAAAAA

intronic

De novo

-

Trost2022 G

GRIP1

2-1458-003

chr12:
66906338-66906345

GTTTTTAT

AAAAAAAA

intronic

De novo

-

Trost2022 G

GRIP1

REACH000171

chr12:
67189120-67189120

C

A

intergenic

De novo

-

Trost2022 G

GRIP1

5-0134-003

chr12:
67170330-67170330

A

G

intergenic

De novo

-

Trost2022 G

GRIP1

MSSNG00351-004

chr12:
67177473-67177474

AG

A

intergenic

De novo

-

Trost2022 G

GRIP1

3-0099-000

chr12:
67107804-67107804

A

G

intergenic

De novo

-

Trost2022 G

GRIP1

7-0095-003

chr12:
66794670-66794670

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

MSSNG00251-003

chr12:
67145958-67145958

T

C

intergenic

De novo

-

Trost2022 G

GRIP1

1-0859-003

chr12:
67067863-67067863

G

A

intronic

De novo

-

Trost2022 G

GRIP1

MSSNG00026-003

chr12:
67087778-67087778

C

G

intergenic

De novo

-

Trost2022 G

GRIP1

iHART2051

G

A

exonic

Maternal

stopgain

NM_001178074
NM_021150

c.C43T
c.C43T

p.R15X
p.R15X

37.0

Ruzzo2019 G

GRIP1

7-0133-003

chr12:
67318384-67318388

GCTAA

G

intergenic

De novo

-

Yuen2017 G

GRIP1

mAGRE2051

G

A

exonic

Maternal

stopgain

NM_001178074
NM_021150

c.C43T
c.C43T

p.R15X
p.R15X

37.0

Cirnigliaro2023 G

GRIP1

1-0465-003

chr12:
66748766-66748766

T

G

intronic

De novo

-

Yuen2017 G

GRIP1

mAGRE2049

G

A

exonic

Maternal

stopgain

NM_001178074
NM_021150

c.C43T
c.C43T

p.R15X
p.R15X

37.0

Cirnigliaro2023 G

GRIP1

1-0388-003

chr12:
66815843-66815843

C

T

intronic

De novo

-

Yuen2017 G

GRIP1

iHART2049

G

A

exonic

Maternal

stopgain

NM_001178074
NM_021150

c.C43T
c.C43T

p.R15X
p.R15X

37.0

Ruzzo2019 G

GRIP1

1-0054-004

chr12:
66995680-66995680

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

Kenny2014:7

chr12:
66923668-66923668

G

A

exonic

Unknown

stopgain

NM_001178074
NM_021150

c.C445T
c.C445T

p.R149X
p.R149X

18.49

-

Kenny2014 T

GRIP1

2-1085-004

chr12:
67184395-67184395

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

2-0045-003

chr12:
66981627-66981627

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

7-0055-003

chr12:
67052082-67052082

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

1-0563-003

A

AAGTGGTACAC

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

1420001

chr12:
66786288-66786288

T

C

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GRIP1

5-0021-003

chr12:
66863176-66863176

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

AU3371305

chr12:
67420226-67420226

T

C

intergenic

De novo

-

Yuen2017 G

GRIP1

1-0744-003

chr12:
66845921-66845921

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

AU4067301

chr12:
67243324-67243324

G

A

intergenic

De novo

-

Yuen2017 G

GRIP1

AU3692301

chr12:
67262165-67262166

CA

CAA

intergenic

De novo

-

Yuen2017 G

GRIP1

2-1269-003

chr12:
67281967-67281967

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIP1

14370.p1

chr12:
67215014-67215014

T

A

intergenic

De novo

-

Turner2016 G

GRIP1

Yalcintepe2021:7

chr12:
66935707-66935707

C

T

exonic

nonsynonymous SNV

NM_001178074
NM_021150

c.G160A
c.G160A

p.V54I
p.V54I

19.12

0.0012

Yalcintepe2021 T

GRIP1

2-1357-004

chr12:
67316668-67316668

G

C

intergenic

De novo

-

Yuen2017 G

GRIP1

AU3605304

chr12:
67021303-67021303

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIP1

1-0272-004