Variant Results

or

Results for "ZNF292"

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

ZNF292

GX0317.p1

chr6:
87966826-87966826

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C3479T

p.P1160L

8.829

7.485E-5

Guo2018 T

ZNF292

M32019

chr6:
87966182-87966182

G

C

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G2835C

p.Q945H

6.107

-

Guo2018 T

ZNF292

GX0529.p2

chr6:
87968635-87968635

A

G

exonic

Maternal

nonsynonymous SNV

NM_015021

c.A5288G

p.K1763R

16.42

-

Guo2018 T

ZNF292

08C76718

chr6:
87966770-87966770

A

G

exonic

De novo

synonymous SNV

NM_015021

c.A3423G

p.K1141K

-

Fu2022 E

ZNF292

GX0014.p1

chr6:
87968497-87968497

C

G

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C5150G

p.A1717G

11.6

2.545E-5

Guo2018 T

ZNF292

09C82101

chr6:
87969505-87969507

CAG

C

exonic

De novo

frameshift deletion

NM_015021

c.6159_6160del

p.T2053fs

-

Fu2022 E

ZNF292

M8124

chr6:
87968401-87968401

A

G

exonic

Unknown

nonsynonymous SNV

NM_015021

c.A5054G

p.N1685S

12.19

8.431E-6

Wang2016 T

ZNF292

SP0011248

chr6:
87970567-87970567

A

G

exonic

De novo

nonsynonymous SNV

NM_015021

c.A7220G

p.Y2407C

15.72

-

Fu2022 E
Zhou2022 GE

ZNF292

HN0038.p1

chr6:
87965174-87965174

G

C

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G1827C

p.L609F

13.13

-

Guo2018 T

ZNF292

M15234

chr6:
87965853-87965853

G

A

exonic

Paternal, Unknown

nonsynonymous SNV

NM_015021

c.G2506A

p.E836K

15.96

5.151E-5

Guo2018 T
Wang2016 T

ZNF292

GX0409.p1

chr6:
87964902-87964902

A

G

exonic

Maternal

nonsynonymous SNV

NM_015021

c.A1555G

p.R519G

13.05

-

Guo2018 T

ZNF292

SP0085428

chr6:
87968807-87968807

A

G

exonic

De novo

synonymous SNV

NM_015021

c.A5460G

p.P1820P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF292

TASC_214-17079-1

chr6:
87953295-87953295

C

T

exonic

Unknown

nonsynonymous SNV

NM_015021

c.C844T

p.R282C

22.4

-

Wang2020 T

ZNF292

ACGC_HEN437.p1

chr6:
87969620-87969620

G

GA

exonic

Unknown

frameshift insertion

NM_015021

c.6274dupA

p.E2091fs

-

Wang2020 T

ZNF292

ACGC_SX0093.p1

chr6:
87965244-87965244

C

T

exonic

Unknown

stopgain

NM_015021

c.C1897T

p.R633X

24.1

-

Wang2020 T

ZNF292

GM182291

chr6:
87967536-87967536

C

T

exonic

De novo

stopgain

NM_015021

c.C4189T

p.R1397X

40.0

-

Fu2022 E

ZNF292

Naples_6625

chr6:
87955295-87955295

G

A

exonic

Unknown

nonsynonymous SNV

NM_015021

c.G953A

p.R318H

23.9

4.064E-5

Wang2020 T

ZNF292

GX0495.p1

chr6:
87970887-87970887

T

G

exonic

Maternal

nonsynonymous SNV

NM_015021

c.T7540G

p.F2514V

0.01

-

Guo2018 T

ZNF292

GX0529.p1

chr6:
87968635-87968635

A

G

exonic

Maternal

nonsynonymous SNV

NM_015021

c.A5288G

p.K1763R

16.42

-

Guo2018 T

ZNF292

Leuven2_84824820

chr6:
87970355-87970356

GA

G

exonic

Unknown

frameshift deletion

NM_015021

c.7009delA

p.K2337fs

-

Wang2020 T

ZNF292

GX0326.p1

chr6:
87971421-87971421

G

A

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G8074A

p.V2692I

20.5

8.507E-6

Guo2018 T

ZNF292

Leuven2_65917668

chr6:
87970355-87970356

GA

G

exonic

Unknown

frameshift deletion

NM_015021

c.7009delA

p.K2337fs

-

Wang2020 T

ZNF292

M8367

chr6:
87970921-87970921

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A7574G

p.Q2525R

4.106

-

Wang2016 T

ZNF292

M32023

chr6:
87967763-87967763

A

AT

exonic

De novo

frameshift insertion

NM_015021

c.4417dupT

p.R1472fs

-

Guo2018 T

ZNF292

AU3636301

chr6:
87957456-87957456

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF292

GX0560.p1

chr6:
87969480-87969480

G

A

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G6133A

p.V2045I

4.208

0.1342

Guo2018 T

ZNF292

HEN0132.p1

chr6:
87966826-87966826

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C3479T

p.P1160L

8.829

7.485E-5

Guo2018 T

ZNF292

HEN0331.p1

chr6:
87969899-87969899

A

A/C

exonic

Maternal

-

Guo2018 T

ZNF292

M19664

chr6:
87964539-87964539

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C1192T

p.P398S

19.45

8.301E-6

Guo2018 T
Wang2016 T

ZNF292

M12425

chr6:
87966031-87966031

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C2684T

p.A895V

0.039

1.0E-4

Wang2016 T

ZNF292

M16103

chr6:
87966747-87966747

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C3400T

p.R1134C

13.74

8.383E-5

Guo2018 T
Wang2016 T

ZNF292

M08083

chr6:
87966748-87966748

G

A

exonic

Paternal

nonsynonymous SNV

NM_015021

c.G3401A

p.R1134H

17.96

3.0E-4

Guo2018 T

ZNF292

M8461

chr6:
87968182-87968182

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C4835T

p.P1612L

14.93

-

Wang2016 T

ZNF292

M04453

chr6:
87925706-87925706

A

A/G

exonic

Paternal

-

Guo2018 T

ZNF292

M15166

chr6:
87966031-87966031

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C2684T

p.A895V

0.039

1.0E-4

Wang2016 T

ZNF292

M08124

chr6:
87968401-87968401

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A5054G

p.N1685S

12.19

8.431E-6

Guo2018 T

ZNF292

SP0004244

chr6:
87964914-87964914

C

T

exonic

De novo

stopgain

NM_015021

c.C1567T

p.Q523X

21.5

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF292

M21675

chr6:
87966031-87966031

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C2684T

p.A895V

0.039

1.0E-4

Wang2016 T

ZNF292

M23597

chr6:
87966915-87966915

C

C/T

exonic

Paternal

-

Guo2018 T

ZNF292

M17599

chr6:
87968293-87968293

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C4946T

p.T1649I

5.319

9.202E-5

Guo2018 T
Wang2016 T

ZNF292

M08903

chr6:
87865334-87865334

G

C

exonic

Paternal

nonsynonymous SNV

NM_015021

c.G25C

p.E9Q

26.0

-

Guo2018 T

ZNF292

M23700

chr6:
87968779-87968779

C

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C5432T

p.P1811L

0.659

1.0E-4

Wang2016 T

ZNF292

M08367

chr6:
87970921-87970921

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A7574G

p.Q2525R

4.106

-

Guo2018 T

ZNF292

M16053

chr6:
87968401-87968401

A

A/G

exonic

Paternal

-

Guo2018 T

ZNF292

M10045

chr6:
87925621-87925621

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A169G

p.T57A

17.89

2.0E-4

Guo2018 T
Wang2016 T

ZNF292

M17637

chr6:
87965560-87965560

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A2213G

p.N738S

15.75

7.502E-5

Guo2018 T
Wang2016 T

ZNF292

M12431

chr6:
87971379-87971379

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A8032G

p.T2678A

0.049

-

Guo2018 T
Wang2016 T

ZNF292

M27865

chr6:
87967776-87967776

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A4429G

p.N1477D

12.61

-

Guo2018 T
Wang2016 T

ZNF292

M11451

chr6:
87969813-87969813

G

A

exonic

Paternal

nonsynonymous SNV

NM_015021

c.G6466A

p.A2156T

11.24

6.632E-5

Wang2016 T

ZNF292

M17615

chr6:
87965556-87965556

C

A

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C2209A

p.L737I

17.7

-

Guo2018 T
Wang2016 T

ZNF292

MD2071

chr6:
87968399-87968399

A

C

exonic

Maternal

nonsynonymous SNV

NM_015021

c.A5052C

p.E1684D

11.01

8.428E-6

Guo2018 T
Wang2016 T

ZNF292

SF0004244.p1

chr6:
87964914-87964914

C

T

exonic

stopgain

NM_015021

c.C1567T

p.Q523X

21.5

-

Wang2020 T

ZNF292

M02463

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_015021
NM_015021

c.2488_2489insATCAC
c.2492_2493insCGATCAC

p.D830fs
p.H831fs

-

Guo2018 T
Stessman2017 T
Wang2016 T

ZNF292

SF0011248.p1

chr6:
87970567-87970567

A

G

exonic

nonsynonymous SNV

NM_015021

c.A7220G

p.Y2407C

15.72

-

Wang2020 T

ZNF292

M15169

chr6:
87968779-87968779

C

T

exonic

Unknown

nonsynonymous SNV

NM_015021

c.C5432T

p.P1811L

0.659

1.0E-4

Wang2016 T

ZNF292

M21462

chr6:
87966319-87966319

A

T

exonic

Maternal

nonsynonymous SNV

NM_015021

c.A2972T

p.E991V

2.066

-

Guo2018 T
Wang2016 T

ZNF292

M11397

chr6:
87966129-87966129

C

A

exonic

Paternal

nonsynonymous SNV

NM_015021

c.C2782A

p.P928T

0.34

9.227E-5

Guo2018 T
Wang2016 T

ZNF292

HEN0037.p1

chr6:
87964852-87964852

G

T

exonic

Paternal

nonsynonymous SNV

NM_015021

c.G1505T

p.G502V

6.358

4.155E-5

Guo2018 T

ZNF292

SD0043.p1

chr6:
87968769-87968769

G

T

exonic

Paternal

nonsynonymous SNV

NM_015021

c.G5422T

p.D1808Y

6.497

1.0E-4

Guo2018 T

ZNF292

GX0567.p1

chr6:
87968497-87968497

C

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.C5150G

p.A1717G

11.6

2.545E-5

Guo2018 T

ZNF292

ACGC_M32023

chr6:
87967763-87967763

A

AT

exonic

De novo

frameshift insertion

NM_015021

c.4417dupT

p.R1472fs

-

Wang2020 T

ZNF292

ACGC_M02463

chr6:
87965835-87965835

G

GATCAC

exonic

De novo

frameshift insertion

NM_015021

c.2488_2489insATCAC

p.D830fs

-

Wang2020 T

ZNF292

HEN0005.p1

chr6:
87969636-87969636

C

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.C6289G

p.P2097A

13.3

8.312E-6

Guo2018 T

ZNF292

JS0059.p1

chr6:
87969306-87969306

C

A

exonic

Paternal

nonsynonymous SNV

NM_015021

c.C5959A

p.P1987T

15.25

-

Guo2018 T

ZNF292

JS0050.p1

chr6:
87970945-87970945

T

A

exonic

Paternal

nonsynonymous SNV

NM_015021

c.T7598A

p.V2533D

3.423

-

Guo2018 T

ZNF292

M17593

chr6:
87970283-87970283

G

C

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G6936C

p.K2312N

4.466

-

Guo2018 T

ZNF292

12522.p1

chr6:
87928346-87928346

C

G

exonic

Unknown

nonsynonymous SNV

NM_015021

c.C435G

p.S145R

19.99

-

Wang2020 T

ZNF292

7-0094-004

chr6:
87870434-87870434

A

G

intronic

De novo

-

Trost2022 G

ZNF292

M03773

chr6:
87969636-87969636

C

C/T

exonic

Maternal

-

Guo2018 T

ZNF292

AU059003

chr6:
87898658-87898658

C

G

intronic

De novo

-

Trost2022 G

ZNF292

M08548

chr6:
87966735-87966735

T

G

exonic

Maternal

nonsynonymous SNV

NM_015021

c.T3388G

p.F1130V

16.89

-

Guo2018 T

ZNF292

M01533

chr6:
87965248-87965248

C

C/T

exonic

Maternal

-

Guo2018 T

ZNF292

M21489

chr6:
87969145-87969145

T

C

exonic

Maternal

nonsynonymous SNV

NM_015021

c.T5798C

p.M1933T

11.67

-

Guo2018 T

ZNF292

M18482

chr6:
87968409-87968409

C

A

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C5062A

p.Q1688K

11.12

-

Guo2018 T

ZNF292

214-17079-1

chr6:
87953295-87953295

C

T

exonic

Unknown

nonsynonymous SNV

NM_015021

c.C844T

p.R282C

22.4

-

Stessman2017 T

ZNF292

M18374

chr6:
87964463-87964463

C

G

exonic

Maternal

nonsynonymous SNV

NM_015021

c.C1116G

p.C372W

14.2

-

Guo2018 T
Wang2016 T

ZNF292

MSSNG00173-003

chr6:
87951302-87951302

A

G

intronic

De novo

-

Trost2022 G

ZNF292

M23182

chr6:
87953317-87953317

T

C

exonic

Paternal

nonsynonymous SNV

NM_015021

c.T866C

p.M289T

10.32

-

Guo2018 T
Wang2016 T

ZNF292

AU2463301

chr6:
87911070-87911070

C

T

intronic

De novo

-

Trost2022 G

ZNF292

4-0062-003

chr6:
87944627-87944629

GTA

CTC

intronic

De novo

-

Trost2022 G

ZNF292

SAGE_BK885-01

chr6:
87969505-87969507

CAG

C

exonic

Unknown

frameshift deletion

NM_015021

c.6159_6160del

p.T2053fs

-

Wang2020 T

ZNF292

TASC_219-2341-1

chr6:
87969505-87969507

CAG

C

exonic

De novo

frameshift deletion

NM_015021

c.6159_6160del

p.T2053fs

-

Wang2020 T

ZNF292

M8548

chr6:
87966735-87966735

T

G

exonic

Maternal

nonsynonymous SNV

NM_015021

c.T3388G

p.F1130V

16.89

-

Wang2016 T

ZNF292

14195.p1

chr6:
87965968-87965968

C

T

exonic

nonsynonymous SNV

NM_015021

c.C2621T

p.S874L

7.61

-

Zhou2022 GE

ZNF292

EGAN00001101080

chr6:
87967700-87967700

A

G

exonic

De novo

synonymous SNV

NM_015021

c.A4353G

p.P1451P

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF292

M12327

chr6:
87966408-87966408

T

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.T3061G

p.L1021V

10.73

7.501E-5

Wang2016 T

ZNF292

GX0205.p1

chr6:
87966391-87966391

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A3044G

p.D1015G

8.078

-

Guo2018 T

ZNF292

M10153

chr6:
87968363-87968363

T

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.T5016G

p.N1672K

5.072

-

Guo2018 T
Wang2016 T

ZNF292

GX0257.p1

chr6:
87966174-87966174

C

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.C2827G

p.L943V

4.908

-

Guo2018 T

ZNF292

AU1308303

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ZNF292

GX0230.p1

chr6:
87969480-87969480

G

A/G

exonic

Paternal

-

Guo2018 T

ZNF292

GX0404.p1

chr6:
87969211-87969211

C

T

exonic

Paternal

nonsynonymous SNV

NM_015021

c.C5864T

p.T1955I

17.0

-

Guo2018 T

ZNF292

GX0213.p1

chr6:
87970017-87970017

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A6670G

p.K2224E

16.96

-

Guo2018 T

ZNF292

GX0194.p1

chr6:
87969552-87969552

A

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.A6205G

p.T2069A

0.057

-

Guo2018 T

ZNF292

HN0017.p1

chr6:
87967761-87967761

C

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.C4414G

p.R1472G

13.95

-

Guo2018 T

ZNF292

GX0240.p1

chr6:
87967393-87967393

G

C

exonic

Paternal

nonsynonymous SNV

NM_015021

c.G4046C

p.R1349P

14.97

-

Guo2018 T

ZNF292

GX0019.p1

chr6:
87969145-87969145

T

C

exonic

Paternal

nonsynonymous SNV

NM_015021

c.T5798C

p.M1933T

11.67

-

Guo2018 T

ZNF292

GX0128.p1

chr6:
87968263-87968263

T

C

exonic

Paternal

nonsynonymous SNV

NM_015021

c.T4916C

p.I1639T

5.385

1.67E-5

Guo2018 T

ZNF292

GX0332.p1

chr6:
87970390-87970390

T

G

exonic

Paternal

nonsynonymous SNV

NM_015021

c.T7043G

p.I2348S

0.418

2.0E-4

Guo2018 T

ZNF292

M20676

chr6:
87967891-87967891

G

A

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G4544A

p.G1515D

9.695

-

Guo2018 T
Wang2016 T

ZNF292

M23757

chr6:
87969586-87969586

G

A

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G6239A

p.R2080Q

14.66

7.877E-5

Guo2018 T
Wang2016 T

ZNF292

133344

chr6:
87969889-87969889

G

T

exonic

nonsynonymous SNV

NM_015021

c.G6542T

p.R2181L

22.6

-

Woodbury-Smith2022 E

ZNF292

13980.p1

chr6:
87968677-87968677

C

CT

exonic

De novo

frameshift insertion

NM_015021

c.5331dupT

p.S1777fs

-

Wilfert2021 G
Zhou2022 GE

ZNF292

M19655

chr6:
87970455-87970455

G

A

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G7108A

p.A2370T

3.425

-

Guo2018 T
Wang2016 T

ZNF292

09C98975

chr6:
87925717-87925717

C

T

exonic

Unknown, De novo

stopgain

NM_015021

c.C265T

p.R89X

27.8

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

ZNF292

M15196

chr6:
87970684-87970684

A

G

exonic

Maternal

nonsynonymous SNV

NM_015021

c.A7337G

p.N2446S

0.003

-

Guo2018 T
Wang2016 T

ZNF292

M12406

chr6:
87969813-87969813

G

A

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G6466A

p.A2156T

11.24

6.632E-5

Wang2016 T

ZNF292

M23681

chr6:
87969813-87969813

G

A

exonic

Maternal

nonsynonymous SNV

NM_015021

c.G6466A

p.A2156T

11.24

6.632E-5

Wang2016 T

ZNF292

219-2341-1

chr6:
87969506-87969508

AGA

A

exonic

Inherited

frameshift deletion

NM_015021

c.6160_6161del

p.E2054fs

-

Stessman2017 T

ZNF292

2-1720-003

chr6:
87935481-87935481

G

A

intronic

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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