Variant Results

or

Results for "MED13L"

Variant Events: 131

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

MED13L

M10159

chr12:
116429431-116429431

A

G

exonic

Unknown

nonsynonymous SNV

NM_015335

c.T3328C

p.Y1110H

16.28

-

Wang2016 T

MED13L

AU2117302

chr12:
116444539-116444539

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

JS0072.p1

chr12:
116409976-116409976

G

A

exonic

Maternal

nonsynonymous SNV

NM_015335

c.C5797T

p.R1933W

22.7

-

Guo2018 T

MED13L

09C91528

chr12:
116434859-116434859

C

A

exonic

De novo

stopgain

NM_015335

c.G2746T

p.E916X

43.0

-

Stessman2017 T
Stessman2017 T

MED13L

1-0985-003

chr12:
116574708-116574708

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

M21650

chr12:
116446833-116446833

G

A

exonic

Unknown

nonsynonymous SNV

NM_015335

c.C1385T

p.P462L

15.52

3.295E-5

Wang2016 T

MED13L

M01693

chr12:
116420372-116420372

C

C/G

exonic

Paternal

-

Guo2018 T

MED13L

HN0070.p1

chr12:
116429039-116429039

C

CA

exonic

De novo

frameshift insertion

NM_015335

c.3719dupT

p.L1240fs

-

Guo2018 T

MED13L

HEN0261.p1

chr12:
116422077-116422077

A

G

exonic

Maternal

nonsynonymous SNV

NM_015335

c.T4439C

p.V1480A

20.9

-

Guo2018 T

MED13L

7-0024-005

chr12:
116655412-116655412

A

AAACACG

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

M08314

chr12:
116418576-116418576

C

G

exonic

Paternal

nonsynonymous SNV

NM_015335

c.G5343C

p.E1781D

12.35

-

Guo2018 T

MED13L

12969.p1

Complex Event; expand row to view variants

De novo

splicing

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

MED13L

3-0458-000B

chr12:
116624898-116624898

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

13649.p1

chr12:
116499561-116499561

T

G

intronic

De novo

-

Turner2016 G

MED13L

1-0282-003

chr12:
116429833-116429833

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

JASD_Fam0010

chr12:
116403994-116403994

G

A

exonic

De novo

nonsynonymous SNV

NM_015335

c.C6280T

p.P2094S

24.0

-

Takata2018 E

MED13L

2-1322-004

chr12:
116507486-116507486

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

Codina-Sola2015:ASD_9

chr12:
116413537-116413537

T

A

exonic

Paternal

nonsynonymous SNV

NM_015335

c.A5371T

p.S1791C

20.9

-

Codina-Sola2015 E

MED13L

1-0025-006

chr12:
116625539-116625539

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

M21769

chr12:
116420323-116420323

T

C

exonic

Maternal

nonsynonymous SNV

NM_015335

c.A5041G

p.M1681V

23.8

8.257E-6

Wang2016 T

MED13L

M8620

chr12:
116446308-116446308

C

T

exonic

Maternal

nonsynonymous SNV

NM_015335

c.G1910A

p.R637H

11.79

1.0E-4

Wang2016 T

MED13L

Codina-Sola2015:ASD_11

chr12:
116446508-116446510

ACT

A

exonic

De novo

frameshift deletion

NM_015335

c.1708_1709del

p.S570fs

-

Codina-Sola2015 E

MED13L

1-0563-004

chr12:
116601270-116601271

AG

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

M23263

chr12:
116446833-116446833

G

A

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C1385T

p.P462L

15.52

3.295E-5

Wang2016 T

MED13L

M16119

chr12:
116457645-116457645

G

A

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C758T

p.S253L

7.17

7.423E-5

Guo2018 T
Wang2016 T

MED13L

1-0469-003

chr12:
116461716-116461716

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

M21480

chr12:
116413380-116413380

C

A

exonic

Maternal

nonsynonymous SNV

NM_015335

c.G5528T

p.C1843F

27.8

-

Wang2016 T

MED13L

M19792

chr12:
116422094-116422094

C

A

exonic

Maternal

nonsynonymous SNV

NM_015335

c.G4422T

p.K1474N

17.64

-

Guo2018 T
Wang2016 T

MED13L

2-1415-004

chr12:
116725685-116725685

G

T

intergenic

De novo

-

Yuen2017 G

MED13L

M17649

chr12:
116418713-116418713

T

C

exonic

Unknown, Paternal

nonsynonymous SNV

NM_015335

c.A5206G

p.M1736V

11.01

2.485E-5

Guo2018 T
Wang2016 T

MED13L

M23196

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_015335
NM_015335

c.2395_2396del
c.2394_2395del

p.Q799fs
p.T798fs

-

Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T

MED13L

M21695

chr12:
116413426-116413426

C

A

exonic

Unknown

nonsynonymous SNV

NM_015335

c.G5482T

p.V1828L

28.9

9.897E-5

Wang2016 T

MED13L

M08620

chr12:
116446308-116446308

C

T

exonic

Maternal

nonsynonymous SNV

NM_015335

c.G1910A

p.R637H

11.79

1.0E-4

Guo2018 T

MED13L

M20306

chr12:
116408522-116408522

A

C

exonic

Unknown

nonsynonymous SNV

NM_015335

c.T5944G

p.S1982A

22.1

8.251E-6

Wang2016 T

MED13L

M08121

chr12:
116429323-116429323

C

T

exonic

Maternal

nonsynonymous SNV

NM_015335

c.G3436A

p.G1146R

19.89

-

Guo2018 T

MED13L

M8698

chr12:
116413426-116413426

C

A

exonic

Unknown

nonsynonymous SNV

NM_015335

c.G5482T

p.V1828L

28.9

9.897E-5

Wang2016 T

MED13L

GX0553.p1

chr12:
116406771-116406771

C

T

exonic

Paternal

nonsynonymous SNV

NM_015335

c.G6199A

p.V2067M

17.05

-

Guo2018 T

MED13L

HEN0310.p1

chr12:
116399115-116399115

C

G

exonic

Paternal

nonsynonymous SNV

NM_015335

c.G6589C

p.V2197L

23.0

-

Guo2018 T

MED13L

HEN0102.p1

chr12:
116434281-116434281

T

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.A2996G

p.N999S

10.69

-

Guo2018 T

MED13L

SP0037344

chr12:
116434883-116434883

T

C

exonic

De novo

nonsynonymous SNV

NM_015335

c.A2722G

p.T908A

12.75

-

Feliciano2019 E
Fu2022 E
Zhou2022 GE

MED13L

AU4212303

chr12:
116841834-116841834

C

T

intergenic

De novo

-

Yuen2017 G

MED13L

AU4308302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MED13L

M12344

chr12:
116446617-116446617

C

A

exonic

Paternal

nonsynonymous SNV

NM_015335

c.G1601T

p.R534I

14.53

8.266E-5

Guo2018 T
Wang2016 T

MED13L

Miyake2023:14128

chr12:
116403994-116403994

G

A

exonic

De novo

nonsynonymous SNV

NM_015335

c.C6280T

p.P2094S

24.0

-

Miyake2023 E

MED13L

HN0057.p1

chr12:
116418593-116418593

G

A

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C5326T

p.P1776S

29.5

-

Guo2018 T

MED13L

3-0458-000

chr12:
116624898-116624898

C

T

intronic

De novo

-

Yuen2016 G

MED13L

GX0516.p1

chr12:
116410005-116410005

G

A

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C5768T

p.T1923I

26.8

2.0E-4

Guo2018 T

MED13L

GX0491.p1

chr12:
116445394-116445394

T

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.A2060G

p.Q687R

6.963

8.239E-6

Guo2018 T

MED13L

M30585

chr12:
116444143-116444143

G

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C2312G

p.A771G

16.25

8.265E-6

Guo2018 T

MED13L

HN0061.p1

chr12:
116457747-116457747

G

A

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C656T

p.T219M

16.89

2.0E-4

Guo2018 T

MED13L

GX0128.p1

chr12:
116446851-116446851

G

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C1367G

p.S456C

14.39

-

Guo2018 T

MED13L

M31840

chr12:
116446308-116446308

C

T

exonic

Paternal

nonsynonymous SNV

NM_015335

c.G1910A

p.R637H

11.79

1.0E-4

Guo2018 T

MED13L

Wang2023:377

chr12:
116420410-116420410

T

A

splicing

De novo

splicing

19.17

-

Wang2023 E

MED13L

M30330

chr12:
116457645-116457645

G

A

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C758T

p.S253L

7.17

7.423E-5

Guo2018 T

MED13L

635-18522

chr12:
116399093-116399093

T

C

exonic

Inherited

nonsynonymous SNV

NM_015335

c.A6611G

p.N2204S

27.3

-

Callaghan2019 G

MED13L

GX0215.p1

chr12:
116446851-116446851

G

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C1367G

p.S456C

14.39

-

Guo2018 T

MED13L

1006001

chr12:
116446798-116446802

CCTGT

C

exonic

De novo

frameshift deletion

NM_015335

c.1416_1419del

p.R472fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MED13L

Hu2022:35

chr12:
116418709-116418709

T

C

exonic

Unknown

nonsynonymous SNV

NM_015335

c.A5210G

p.K1737R

16.01

-

Hu2022 T

MED13L

M12490

chr12:
116403957-116403957

G

A

exonic

Maternal

nonsynonymous SNV

NM_015335

c.C6317T

p.A2106V

36.0

-

Guo2018 T
Wang2016 T

MED13L

152190

chr12:
116418554-116418554

C

A

splicing

De novo

splicing

21.1

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MED13L

M21513

chr12:
116413542-116413542

C

T

exonic

Paternal

nonsynonymous SNV

NM_015335

c.G5366A

p.R1789Q

17.34

1.692E-5

Wang2016 T

MED13L

M19571

chr12:
116418581-116418581

T

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.A5338G

p.I1780V

7.379

-

Guo2018 T
Wang2016 T

MED13L

M13338

chr12:
116413537-116413537

T

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.A5371G

p.S1791G

20.3

2.52E-5

Guo2018 T
Wang2016 T

MED13L

M18927

chr12:
116457643-116457643

T

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.A760G

p.K254E

9.257

8.248E-6

Guo2018 T
Wang2016 T

MED13L

1-0779-003

chr12:
116429209-116429209

A

G

exonic

De novo

synonymous SNV

NM_015335

c.T3550C

p.L1184L

-

8.285E-6

Trost2022 G
Zhou2022 GE

MED13L

M12368

chr12:
116534535-116534535

C

T

exonic

Paternal

nonsynonymous SNV

NM_015335

c.G418A

p.V140I

17.67

1.0E-4

Wang2016 T

MED13L

M19729

chr12:
116446920-116446920

C

T

exonic

Paternal

nonsynonymous SNV

NM_015335

c.G1298A

p.R433H

15.86

1.655E-5

Guo2018 T
Wang2016 T

MED13L

M17691

chr12:
116457643-116457643

T

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.A760G

p.K254E

9.257

8.248E-6

Guo2018 T
Wang2016 T

MED13L

1-1071-003

chr12:
116446560-116446560

G

GATAT

exonic

De novo

frameshift insertion

NM_015335

c.1657_1658insATAT

p.S553fs

-

Trost2022 G
Zhou2022 GE

MED13L

SJD_34.3

chr12:
116507826-116507826

A

T

intronic

De novo

-

Trost2022 G

MED13L

3-0103-000

chr12:
116513628-116513628

A

C

intronic

De novo

-

Trost2022 G

MED13L

AU053503

chr12:
116462620-116462620

A

G

intronic

De novo

-

Trost2022 G

MED13L

REACH000233

chr12:
116476578-116476578

G

A

intronic

De novo

-

Trost2022 G

MED13L

7-0389-003

chr12:
116434082-116434082

A

G

intronic

De novo

-

Trost2022 G

MED13L

7-0438-003

chr12:
116448104-116448104

T

C

intronic

De novo

-

Trost2022 G

MED13L

M11432

chr12:
116440906-116440906

G

C

exonic

Maternal, Unknown

nonsynonymous SNV

NM_015335

c.C2471G

p.A824G

16.93

-

Guo2018 T
Wang2016 T

MED13L

mAGRE4945

chr12:
116434859-116434859

C

A

exonic

De novo

stopgain

NM_015335

c.G2746T

p.E916X

43.0

-

Cirnigliaro2023 G

MED13L

1-0552-003

chr12:
116736635-116736635

C

T

intergenic

De novo

-

Yuen2017 G

MED13L

2-1466-003

chr12:
116679058-116679058

C

T

intronic

De novo

-

Yuen2016 G

MED13L

SP0077921

chr12:
116714294-116714294

A

C

intronic

De novo

-

Fu2022 E
Trost2022 G

MED13L

4-0025-003

chr12:
116550010-116550010

T

A

intronic

De novo

-

Trost2022 G

MED13L

SP0027502

chr12:
116399215-116399219

AACAC

A

intronic

De novo

-

Fu2022 E

MED13L

AU2504301

chr12:
116561983-116561983

C

G

intronic

De novo

-

Trost2022 G

MED13L

1-1040-004

chr12:
116547878-116547878

C

T

intronic

De novo

-

Trost2022 G

MED13L

SP0103327

chr12:
116549205-116549205

A

C

intronic

De novo

-

Trost2022 G

MED13L

SP0120666

chr12:
116413114-116413114

G

A

exonic

De novo

nonsynonymous SNV

NM_015335

c.C5593T

p.R1865W

21.6

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MED13L

MT_156.3

chr12:
116530633-116530633

T

C

intronic

De novo

-

Trost2022 G

MED13L

5-5098-003

chr12:
116544150-116544150

C

T

intronic

De novo

-

Trost2022 G

MED13L

SP0021829

chr12:
116424272-116424272

C

T

exonic

De novo

synonymous SNV

NM_015335

c.G4137A

p.P1379P

-

3.316E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MED13L

3-0785-000

chr12:
116518337-116518337

T

C

intronic

De novo

-

Trost2022 G

MED13L

SP0068163

chr12:
116424259-116424259

T

C

exonic

De novo

nonsynonymous SNV

NM_015335

c.A4150G

p.T1384A

18.32

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MED13L

5-2015-003

chr12:
116529817-116529817

T

C

intronic

De novo

-

Trost2022 G

MED13L

1-0672-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

MED13L

1-1100-003

chr12:
116672592-116672592

A

T

intronic

De novo

-

Trost2022 G

MED13L

1-0835-003

chr12:
116818613-116818648

AAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA

AAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

MED13L

SJD_3.3

chr12:
116636732-116636732

T

G

intronic

De novo

-

Trost2022 G

MED13L

10-1104-004

chr12:
116655412-116655412

A

AAACACG

intronic

De novo

-

Trost2022 G

MED13L

7-0411-003

chr12:
116605174-116605174

A

T

intronic

De novo

-

Trost2022 G

MED13L

M19541

chr12:
116403898-116403898

G

C

exonic

Paternal

nonsynonymous SNV

NM_015335

c.C6376G

p.L2126V

23.2

-

Guo2018 T
Wang2016 T

MED13L

M26940

chr12:
116445225-116445225

T

G

exonic

Maternal, Unknown

nonsynonymous SNV

NM_015335

c.A2229C

p.K743N

13.8

-

Guo2018 T
Wang2016 T

MED13L

MSSNG00339-004

chr12:
116619437-116619437

G

A

intronic

De novo

-

Trost2022 G

MED13L

S5K6B

chr12:
116401258-116401258

G

A

exonic

Unknown

nonsynonymous SNV

NM_015335

c.C6454T

p.R2152W

22.2

-

Stessman2017 T

MED13L

4-0037-003

chr12:
116583218-116583218

G

A

intronic

De novo

-

Trost2022 G

MED13L

3-0742-000

chr12:
116593775-116593775

A

T

intronic

De novo

-

Trost2022 G

MED13L

1-0804-003

chr12:
116759787-116759787

C

T

intergenic

De novo

-

Yuen2017 G

MED13L

GX0426.p1

chr12:
116434303-116434303

T

G

exonic

Maternal

nonsynonymous SNV

NM_015335

c.A2974C

p.T992P

12.73

-

Guo2018 T

MED13L

SP0018980

chr12:
116413093-116413093

G

A

exonic

De novo

nonsynonymous SNV

NM_015335

c.C5614T

p.R1872C

21.1

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

MED13L

GX0071.p1

chr12:
116429103-116429103

T

G

exonic

Maternal

nonsynonymous SNV

NM_015335

c.A3656C

p.Q1219P

10.63

-

Guo2018 T

MED13L

GX0213.p1

chr12:
116445244-116445244

G

A

exonic

Maternal

nonsynonymous SNV

NM_015335

c.C2210T

p.T737M

13.82

4.943E-5

Guo2018 T

MED13L

HN0071.p1

chr12:
116444143-116444143

G

C

exonic

Maternal

nonsynonymous SNV

NM_015335

c.C2312G

p.A771G

16.25

8.265E-6

Guo2018 T

MED13L

GX0414.p1

chr12:
116420283-116420283

G

A

exonic

Maternal

nonsynonymous SNV

NM_015335

c.C5081T

p.T1694I

19.06

-

Guo2018 T

MED13L

GX0264.p1

chr12:
116413495-116413495

T

C

exonic

Maternal

nonsynonymous SNV

NM_015335

c.A5413G

p.I1805V

8.817

4.136E-5

Guo2018 T

MED13L

2-0132-004

chr12:
116550102-116550102

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

3-0458-000A

chr12:
116624898-116624898

C

T

intronic

De novo

-

Yuen2017 G

MED13L

GX0191.p1

chr12:
116457645-116457645

G

A

exonic

Maternal

nonsynonymous SNV

NM_015335

c.C758T

p.S253L

7.17

7.423E-5

Guo2018 T

MED13L

SP0117468

Complex Event; expand row to view variants

De novo

frameshift deletion, frameshift substitution

NM_015335
NM_015335

c.3297delC
c.3292_3296A

p.T1099fs
N/A

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

MED13L

GX0328.p1

chr12:
116446329-116446329

T

C

exonic

Maternal

nonsynonymous SNV

NM_015335

c.A1889G

p.E630G

12.74

1.656E-5

Guo2018 T

MED13L

SSC05997

chr12:
116418553-116418553

A

AC

splicing

De novo

splicing

-

Antaki2022 GE
Fu2022 E
Trost2022 G

MED13L

GX0486.p1

chr12:
116457747-116457747

G

A

exonic

Maternal

nonsynonymous SNV

NM_015335

c.C656T

p.T219M

16.89

2.0E-4

Guo2018 T

MED13L

AU076808

chr12:
116607073-116607073

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

2-1398-003

chr12:
116655412-116655412

A

AAACACG

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13L

SP0279585

chr12:
116457718-116457718

C

G

exonic

nonsynonymous SNV

NM_015335

c.G685C

p.D229H

19.2

-

Zhou2022 GE

MED13L

14416.p1

chr12:
116424952-116424952

C

T

exonic

De novo

stopgain

NM_015335

c.G4076A

p.W1359X

45.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

MED13L

SP0223339

chr12:
116408546-116408546

G

A

exonic

stopgain

NM_015335

c.C5920T

p.R1974X

47.0

-

Zhou2022 GE

MED13L

AU3124302

chr12:
116750492-116750492

T

C

intergenic

De novo

-

Yuen2017 G

MED13L

SSC11830

chr12:
116424952-116424952

C

T

exonic

De novo

stopgain

NM_015335

c.G4076A

p.W1359X

45.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

MED13L

2-1112-003

chr12:
116633183-116633183

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MED13L

07C68434

chr12:
116399156-116399156

G

A

exonic

Unknown

nonsynonymous SNV

NM_015335

c.C6548T

p.P2183L

32.0

8.239E-6

Stessman2017 T

MED13L

2-1428-003

chr12:
116655223-116655223

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MED13L

M13354

chr12:
116403973-116403973

C

A

exonic

Unknown, Paternal

nonsynonymous SNV

NM_015335

c.G6301T

p.V2101L

35.0

8.238E-6

Guo2018 T
Stessman2017 T
Wang2016 T

MED13L

547-09-112297

chr12:
116434349-116434349

C

T

exonic

De novo

stopgain

NM_015335

c.G2928A

p.W976X

42.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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
	More