Table 1 Mutations in LIS1/PAFAH1B1 gene associated with cortical brain malformation available in ClinVar [10]. All mutations are associated with lissencephaly phenotype but two that are marked with *(associated with Subcortical band heterotopia) and ** (associated with abnormal cortical gyration)

Likely Pathogenic

 c.1142A > G (p.His381Arg)

H381R

missense

VCV000931583

2,583,597

rs2069361452

 c.967 T > A (p.Trp323Arg)

W323R

missense

VCV000812182

2,579,865

rs2069271269

 c.900G > C (p.Glu300Asp)

E300D

missense

VCV000436141

2,577,582

rs587784291

 c.121G > A (p.Glu41Lys)

E41K

missense

VCV000159503

2,569,313

rs587784250

 c.503G > A (p.Cys168Tyr)

C168Y

missense

VCV000159525

2,573,560

rs200390886

 c.569-3del

non coding

VCV000211827

2,575,943

rs797045863

 c.671 + 4A > G

non coding

VCV000159536

2,576,055

rs587784279

 c.671 + 5G > A

non coding

VCV000159537

2,576,056

rs587784280

 c.751A > C (p.Ser251Arg)

S251R

missense

VCV000159545

2,577,433

rs587784287

 c.900G > A (p.Glu300 =)

missense

VCV000159550

2,577,582

rs587784291

 c.938C > T (p.Ser313Phe)

S313F

missense

VCV000159552

2,579,836

rs587784293

 c.965 T > G (p.Met322Arg)

M322R

missense

VCV000159553

2,579,863

rs587784294

 c.1193G > A (p.Gly398Asp)

G398D

missense

VCV000159500

2,585,056

rs587784247

 NC_000017.11:g.(?_2638238)_(2638345_?)del

large deletion

VCV000495279

2,541,532—2,541,639

 NC_000017.11:g.(?_2680139)_(2681852_?)del

large deletion

VCV000495278

2,583,433—2,585,146

 c.899A > G (p.Glu300Gly)

E300G

missense

VCV000436140

2,577,581

rs1555527149

 c.400-1G > A

splicing acceptor

VCV001526061

2,573,456

 c.661G > A (p.Val221Met)

V221M

missense

VCV000931348

2,576,041

rs1262666760

 c.1009C > G (p.His337Asp)

H337D

missense

VCV000159488

2,583,464

rs587784236

 c.1190C > T (p.Thr397Ile)

T397I

missense

VCV000429277

2,585,053

rs1131691295

 c.722G > C (p.Arg241Pro)*

R241P

missense

VCV000008080

2,577,404

rs121434488

Pathogenic

 c.441dup (p.Gly148fs)

G148fs

frame shift

VCV000211825

2,573,495—2,573,496

rs797045861

 c.162dup (p.Trp55fs)

W55fs

frame shift

VCV000021181

2,569,346—2,569,347

rs113994198

 c.770_772delinsTGACCCA (p.Thr257fs)

T257fs

frame shift

VCV000211832

2,577,452—2,577,454

rs797045868

 c.716dup (p.Met239fs)

M239fs

frame shift

VCV000159542

2,577,397—2,577,398

rs587784284

 c.1050del (p.Lys351fs)

K351fs

frame shift

VCV000021176

2,583,500

rs113994200

 c.703_704del (p.Glu235fs)

E235fs

frame shift

VCV000211829

2,577,382—2,577,383

rs797045865

 c.3G > A (p.Met1Ile)

M1I

missense

VCV000159520

2,541,585

rs587784265

 c.33-3C > T

non coding

VCV000159514

2,568,663

rs587784260

 c.37C > T (p.Arg13Ter)

R13*

stop gain

VCV000159516

2,568,670

rs587784262

 c.56 T > G (p.Leu19Arg)

L19R

missense

VCV000159529

2,568,689

rs587784272

 c.71_72dup (p.Glu25fs)

E25fs

frame shift

VCV000211830

2,568,702—2,568,703

rs797045866

 c.72 T > G (p.Tyr24Ter)

Y24*

stop gain

VCV000159543

2,568,705

rs587784285

 c.84 T > G (p.Tyr28Ter)

Y28*

stop gain

VCV000159547

2,568,717

rs369259961

 c.136_137del (p.Lys46fs)

K46fs

frame shift

VCV000159505

2,569,325—2,569,326

rs587784252

 c.152del (p.Leu51fs)

L51fs

frame shift

VCV000159506

2,569,341

rs587784253

 c.190_192 + 5dup

splice donor

VCV000211820

2,569,381—2,569,382

rs797045857

 c.192G > C (p.Lys64Asn)

K64N

missense

VCV000159511

2,569,384

rs587784257

 c.192 + 1G > T

splice donor

VCV000159510

2,569,385

rs587784256

 c.192 + 1G > A

splice donor

VCV000159509

2,569,385

rs587784256

 c.288_289dup (p.Arg97fs)

R97fs

frame shift

VCV000211821

2,570,378—2,570,379

rs797045858

 c.371 T > A (p.Val124Asp)

V124D

missense

VCV000159515

2,570,464

rs587784261

 c.386A > T (p.Asp129Val)

D129V

missense

VCV000159517

2,570,479

rs587784263

 c.399 + 1G > A

splice donor

VCV000159519

2,570,493

rs587784264

 c.405G > A (p.Trp135Ter)

W135*

stop gain

VCV000159521

2,573,462

rs587784266

 c.455_456del (p.Ser152fs)

S152fs

frame shift

VCV000159523

2,573,510—2,573,511

rs587784268

 c.460C > T (p.Gln154Ter)

Q154*

stop gain

VCV000159524

2,573,517

rs587784269

 c.484G > A (p.Gly162Ser)

G162S

missense

VCV000008079

2,573,541

rs121434487

 c.524_528del (p.Lys175fs)

K175fs

frame shift

VCV000159526

2,573,579—2,573,583

rs587784270

 c.537dup (p.Gln180fs)

Q180fs

frame shift

VCV000211826

2,573,590—2,573,591

rs587784271

 c.537del (p.Gln180fs)

Q180fs

frame shift

VCV000159527

2,573,591

rs587784271

 c.632C > G (p.Ser211Ter)

S211*

stop gain

VCV000159530

2,576,012

rs587784273

 c.644_651del (p.Thr215fs)

T215fs

frame shift

VCV000159531

2,576,018—2,576,025

rs587784274

 c.647_648del (p.Ile216fs)

I216fs

frame shift

VCV000159532

2,576,025—2,576,026

rs587784275

 c.658del (p.Glu220fs)

E220fs

frame shift

VCV000159534

2,576,036

rs587784277

 c.657G > A (p.Trp219Ter)

W219*

stop gain

VCV000159533

2,576,037

rs587784276

 c.667dup (p.Thr223fs)

T223fs

frame shift

VCV000211828

2,576,044—2,576,045

rs797045864

 c.664C > T (p.Gln222Ter)

Q222*

stop gain

VCV000159535

2,576,044

rs587784278

 c.671G > A (p.Gly224Asp)

G224D

missense

VCV000159538

2,576,051

rs587784281

 c.675C > G (p.Tyr225Ter)

Y225*

stop gain

VCV000159539

2,577,357

rs587784282

 c.728_732dup (p.Asp245fs)

D245fs

frame shift

VCV000211831

2,577,406—2,577,407

rs797045867

 c.730C > T (p.Gln244Ter)

Q244*

stop gain

VCV000159544

2,577,412

rs587784286

 c.773_774del (p.Val258fs)

V258fs

frame shift

VCV000211833

2,577,453—2,577,454

rs797045869

 c.829dup (p.His277fs)

H277fs

frame shift

VCV000211834

2,577,510—2,577,511

rs797045870

 c.841 T > C (p.Cys281Arg)

C281R

missense

VCV000159546

2,577,523

rs587784288

 c.851G > A (p.Trp284Ter)

W284*

stop gain

VCV000159548

2,577,533

rs587784289

 c.900 + 1G > A

splice donor

VCV000159549

2,577,583

rs587784290

 c.933dup (p.Leu312fs)

L312fs

frame shift

VCV000211836

2,579,830—2,579,831

rs797045872

 c.1002 + 1G > A

splice donor

VCV000021175

2,579,901

rs113994203

 c.1002 + 5G > A

non coding

VCV000159486

2,579,905

rs587784235

 c.1003-30_1032del

splice acceptor

VCV000211817

2,583,426—2,583,485

rs1555527743

 c.1009C > T (p.His337Tyr)

H337Y

missense

VCV000159489

2,583,464

rs587784236

 c.1018dup (p.Trp340fs)

W340fs

frame shift

VCV000211818

2,583,472—2,583,473

rs797045855

 c.1024_1031del (p.Arg342fs)

R342fs

frame shift

VCV000159490

2,583,479—2,583,486

rs587784237

 c.1050dup (p.Lys351fs)

K351fs

frame shift

VCV000021177

2,583,499—2,583,500

rs113994200

 c.1063del (p.Ser355fs)

S355fs

frame shift

VCV000159491

2,583,518

rs587784238

 c.1064G > A (p.Ser355Asn)

S355N

missense

VCV000159492

2,583,519

rs587784239

 c.1100del (p.Tyr367fs)

Y367fs

frame shift

VCV000159493

2,583,555

rs587784240

 c.1135C > T (p.His379Tyr)

H379Y

missense

VCV000159495

2,583,590

rs587784242

 c.1159G > T (p.Asp387Tyr)

D387Y

missense

VCV000159497

2,583,614

rs587784244

 c.1165C > T (p.His389Tyr)

H389Y

missense

VCV000159498

2,585,028

rs587784245

 c.1196G > C (p.Ser399Thr)

S399T

missense

VCV000159501

2,585,059

rs587784248

 c.1201G > C (p.Asp401His)

D401H

missense

VCV000159502

2,585,064

rs587784249

 c.1233A > C (p.Ter411Cys)

stop lost

VCV000159504

2,585,096

rs587784251

 c.1111C > T (p.Arg371Ter)

R371*

stop gain

VCV000159494

2,583,566

rs587784241

 c.568 + 1G > A

splice donor

VCV000436137

2,573,626

rs1555526733

 c.162del (p.Lys54fs)

K54fs

frame shift

VCV000021180

2,569,347

rs113994198

 c.265C > T (p.Arg89Ter)

R89*

stop gain

VCV000159512

2,570,358

rs587784258

 c.817C > T (p.Arg273Ter)

R273*

stop gain

VCV000008074

2,577,499

rs121434483

 c.305dup (p.Tyr102Ter)

Y102*

stop gain

VCV000159513

2,570,397—2,570,398

rs587784259

 c.347dup (p.His117fs)

H117fs

frame shift

VCV000211823

2,570,436—2,570,437

rs797045859

 c.368 T > A (p.Met123Lys)**

M123K

missense

VCV001077134

2,570,461

 c.523A > T (p.Lys175Ter)

K175*

stop gain

VCV000209180

2,573,580

rs797045061

 c.910del (p.Ser304fs)

S304fs

frame shift

VCV000159551

2,579,802

rs587784292

 c.911del (p.Ser304fs)

S304fs

frame shift

VCV000211835

2,579,809

rs797045871

 c.852G > A (p.Trp284Ter)

W284*

stop gain

VCV000561072

2,577,534

rs1567559851

 c.514dup (p.Met172fs)

M172fs

frame shift

VCV000436136

2,573,570—2,573,571

rs1555526718

 c.430C > T (p.Arg144Ter)

R144*

stop gain

VCV000159522

2,573,487

rs587784267

 c.1159 + 1G > A

splice donor

VCV000379162

2,583,615

rs1057520515

 c.1159 + 2 T > A

splice donor

VCV000159496

2,583,616

rs587784243

 c.569-10 T > C

non coding

VCV000021182

2,575,939

rs113994202

 c.681dupG

L228Glufs

frame shift

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