Total 96 pathogenic variants reported for Bilateral frontoparietal polymicrogyria 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_201525.4(ADGRG1):c.1167+3G>C SNV
Germline		 Chr16:57656620 Likely pathogenic Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA253604 rs_587776623

2 SubmittersRCV000006182RCV001543585
NM_201525.4(ADGRG1):c.621-1G>C SNV
Germline		 Chr16:57653985 Pathogenic Bilateral frontoparietal polymicrogyria No Assertion Criteria Provided
 CA253605 rs_587776624

1 SubmittersRCV000006183
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp) SNV
Germline		 Chr16:57651247 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Abnormality of the nervous system
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA253607 rs_121908462

5 SubmittersRCV000006185RCV001813956RCV003565380RCV004018573
NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser) SNV
Germline		 Chr16:57656244 Likely pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter
 CA253609 rs_121908463

2 SubmittersRCV000006186
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) SNV
Germline		 Chr16:57661707 Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253611 rs_121908464

7 SubmittersRCV000006187RCV000427813
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) SNV
Germline		 Chr16:57651407 Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253613 rs_121908465

3 SubmittersRCV000006188RCV000308240
NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys) SNV
Germline		 Chr16:57651398 Pathogenic Bilateral frontoparietal polymicrogyria No Assertion Criteria Provided
 CA253615 rs_121908466

1 SubmittersRCV000006189
NM_201525.4(ADGRG1):c.-11G>A SNV
Germline		 Chr16:57650277 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
not specified		 Criteria Provided
Conflicting Classifications
 CA271518 rs_112775979

2 SubmittersRCV000146030RCV000245287
NM_201525.4(ADGRG1):c.64+15G>T SNV
Germline		 Chr16:57650366 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271549 rs_200303272

3 SubmittersRCV000146057RCV002055889
NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr) SNV
Germline		 Chr16:57651400 Pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter
 CA271538 rs_587783658

1 SubmittersRCV000146050
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) SNV
Germline		 Chr16:57651421 Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271540 rs_146278035

6 SubmittersRCV000146051RCV000624486RCV001389682
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) SNV
Germline		 Chr16:57651536 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided
ADGRG1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA271544 rs_138344683

7 SubmittersRCV000146053RCV000711843RCV003927428RCV004998297
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=) SNV
Germline		 Chr16:57653327 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided
ADGRG1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA271546 rs_147495708

8 SubmittersRCV000146055RCV000953028RCV003927429RCV004998298
NM_201525.4(ADGRG1):c.620+1G>A SNV
Germline		 Chr16:57653336 Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271548 rs_587783660

2 SubmittersRCV000146056RCV003669107
NM_201525.4(ADGRG1):c.761G>A (p.Arg254Gln) SNV
Germline		 Chr16:57654126 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA271550 rs_145001300

3 SubmittersRCV000146058RCV002055890RCV004019768
NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp) SNV
Germline		 Chr16:57654133 Likely pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Multiple Submitters
No Conflicts
 CA271552 rs_532188689

2 SubmittersRCV000146059
NM_201525.4(ADGRG1):c.1246C>T (p.Leu416=) SNV
Germline		 Chr16:57657451 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271523 rs_587783651

2 SubmittersRCV000146035RCV001401205
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) SNV
Germline		 Chr16:57659534 Pathogenic Bilateral frontoparietal polymicrogyria
Bilateral frontoparietal polymicrogyria
Polymicrogyria, bilateral perisylvian, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271525 rs_587783652

8 SubmittersRCV000146038RCV000762976RCV000806491
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) SNV
Germline		 Chr16:57659568 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271528 rs_587783653

3 SubmittersRCV000146039RCV003727620
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro) SNV
Germline		 Chr16:57659616 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided
Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA271530 rs_587783654

4 SubmittersRCV000146041RCV000255359RCV002227448
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter) SNV
Germline		 Chr16:57659641 Pathogenic Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271532 rs_587783655

2 SubmittersRCV000146042RCV003764887
NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser) SNV
Germline		 Chr16:57661882 Likely pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter
 CA271534 rs_587783656

1 SubmittersRCV000146047
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) SNV
Germline		 Chr16:57663470 Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271536 rs_587783657

3 SubmittersRCV000146049RCV001857509
NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter) SNV
Germline		 Chr16:57650297 Pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter
 CA274490 rs_786204777

1 SubmittersRCV000169661
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) SNV
Germline		 Chr16:57661842 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA240317 rs_113358058

4 SubmittersRCV000724280RCV001271476
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) SNV
Germline		 Chr16:57663501 Conflicting classifications of pathogenicity not specified
Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA205637 rs_111939130

5 SubmittersRCV000192665RCV000724281RCV001831999
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys) SNV
Germline		 Chr16:57651232 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8078287 rs_776480483

4 SubmittersRCV000395102RCV001117566RCV002518977
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg) SNV
Germline		 Chr16:57651622 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria
not specified		 Criteria Provided
Conflicting Classifications
 CA8078376 rs_373741981

7 SubmittersRCV000323492RCV001119169RCV001820827
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter) SNV
Germline		 Chr16:57651502 Pathogenic/Likely pathogenic Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16607322 rs_1047016803

4 SubmittersRCV000434335RCV001835796
NM_201525.4(ADGRG1):c.1287-6G>A SNV
Germline		 Chr16:57659407 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria
ADGRG1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8078727 rs_112805221

5 SubmittersRCV000487789RCV001117689RCV003902737
NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter) SNV
Germline		 Chr16:57651370 Pathogenic Condition: not provided
Bilateral frontoparietal polymicrogyria
Bilateral frontoparietal polymicrogyria
Polymicrogyria, bilateral perisylvian, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA396042599 rs_780718243

8 SubmittersRCV000493599RCV001271447RCV005010412
NM_201525.4(ADGRG1):c.402G>A (p.Pro134=) SNV
Germline		 Chr16:57651537 Conflicting classifications of pathogenicity not specified
Bilateral frontoparietal polymicrogyria
Condition: not provided
ADGRG1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8078351 rs_149607882

4 SubmittersRCV000500743RCV001119167RCV000912260RCV003900045
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=) SNV
Germline		 Chr16:57659497 Conflicting classifications of pathogenicity not specified
Condition: not provided
Bilateral frontoparietal polymicrogyria
ADGRG1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8078744 rs_747812668

6 SubmittersRCV000501852RCV000711838RCV001829426RCV003962383
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) SNV
Germline		 Chr16:57657393 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA8078682 rs_368883473

5 SubmittersRCV000592423RCV001116246
NM_201525.4(ADGRG1):c.1063+8T>C SNV
Germline		 Chr16:57656279 Conflicting classifications of pathogenicity not specified
Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA8078621 rs_760949956

3 SubmittersRCV000609298RCV000929347RCV001116245
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) SNV
Germline		 Chr16:57650301 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8078251 rs_147879224

7 SubmittersRCV000711839RCV001116136RCV004026814
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) SNV
Germline		 Chr16:57650313 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria
Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA8078253 rs_200241873

5 SubmittersRCV000711842RCV000765300RCV001117564
NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter) SNV
Germline		 Chr16:57655528 Pathogenic Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA396047389 rs_1567782714

2 SubmittersRCV000754627RCV001869014
NM_201525.4(ADGRG1):c.811C>T (p.Arg271Ter) SNV
Germline		 Chr16:57655441 Pathogenic Condition: not provided
Bilateral frontoparietal polymicrogyria
Bilateral frontoparietal polymicrogyria
Polymicrogyria, bilateral perisylvian, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8078539 rs_768441855

4 SubmittersRCV000760359RCV003328470RCV005010758
NM_201525.4(ADGRG1):c.391C>T (p.Gln131Ter) SNV
Germline		 Chr16:57651526 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided
Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA8078346 rs_773498177

3 SubmittersRCV000779590RCV003736904RCV005021167
NM_201525.4(ADGRG1):c.407T>A (p.Leu136Ter) SNV
Germline		 Chr16:57651542 Pathogenic/Likely pathogenic Condition: not provided
Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral frontoparietal polymicrogyria
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8078353 rs_763238723

3 SubmittersRCV000820549RCV005021250RCV006249694
NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser) SNV
Germline		 Chr16:57651349 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria
ADGRG1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA8078317 rs_144561715

7 SubmittersRCV000972532RCV001276421RCV003928539RCV006455281
NM_201525.4(ADGRG1):c.985G>A (p.Val329Met) SNV
Germline		 Chr16:57655960 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8078589 rs_61744444

3 SubmittersRCV000908397RCV001116241RCV002540774
NM_201525.4(ADGRG1):c.1270G>A (p.Ala424Thr) SNV
Germline		 Chr16:57657475 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria
ADGRG1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA8078699 rs_147479620

5 SubmittersRCV000899932RCV001117687RCV003968230RCV005436289
NM_201525.4(ADGRG1):c.937T>C (p.Leu313=) SNV
Germline		 Chr16:57655912 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA8078581 rs_776724275

3 SubmittersRCV000915347RCV001121166
NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro) SNV
Germline		 Chr16:57651547 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA8078355 rs_560954695

3 SubmittersRCV000942712RCV001276422
NM_201525.4(ADGRG1):c.1269C>T (p.Ala423=) SNV
Germline		 Chr16:57657474 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA8078698 rs_768984787

2 SubmittersRCV000942701RCV001116248
NM_201525.4(ADGRG1):c.2001G>A (p.Lys667=) SNV
Germline		 Chr16:57663519 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA495638830 rs_1241910381

2 SubmittersRCV000936638RCV001121264
NM_201525.4(ADGRG1):c.462C>G (p.Ala154=) SNV
Germline		 Chr16:57651597 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA8078368 rs_373133040

2 SubmittersRCV000980351RCV001119168
NM_201525.4(ADGRG1):c.2037G>A (p.Ser679=) SNV
Germline		 Chr16:57663555 Conflicting classifications of pathogenicity Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA8078931 rs_186736979

2 SubmittersRCV000975601RCV001121265
NM_201525.4(ADGRG1):c.113G>A (p.Arg38Gln) SNV
Germline		 Chr16:57651248 Pathogenic Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Single Submitter
 CA8078291 rs_764367185

2 SubmittersRCV001069769RCV005614488
NM_201525.4(ADGRG1):c.87G>A (p.Arg29=) SNV
Germline		 Chr16:57651222 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8078286 rs_145668224

2 SubmittersRCV001117565RCV002069899
NM_201525.4(ADGRG1):c.183C>T (p.Ser61=) SNV
Germline		 Chr16:57651318 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8078309 rs_200846541

2 SubmittersRCV001117569RCV001411511
NM_201525.4(ADGRG1):c.685G>A (p.Glu229Lys) SNV
Germline		 Chr16:57654050 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8078475 rs_572021323

3 SubmittersRCV001119171RCV001247793
NM_201525.4(ADGRG1):c.708G>A (p.Thr236=) SNV
Germline		 Chr16:57654073 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8078486 rs_752439023

2 SubmittersRCV001119173RCV001449340
NM_201525.4(ADGRG1):c.726C>T (p.Pro242=) SNV
Germline		 Chr16:57654091 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided
ADGRG1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8078492 rs_371342603

3 SubmittersRCV001121159RCV001398466RCV003945834
NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp) SNV
Germline		 Chr16:57654125 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8078498 rs_368130981

5 SubmittersRCV001121160RCV001577503RCV005318624
NM_201525.4(ADGRG1):c.765G>A (p.Gln255=) SNV
Germline		 Chr16:57654130 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8078499 rs_768174089

2 SubmittersRCV001121161RCV001410978
NM_201525.4(ADGRG1):c.1237G>A (p.Val413Ile) SNV
Germline		 Chr16:57657442 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8078694 rs_372354417

2 SubmittersRCV001116247RCV005318623
NM_201525.4(ADGRG1):c.1563C>T (p.Pro521=) SNV
Germline		 Chr16:57660775 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA495638552 rs_1443429078

2 SubmittersRCV001119257RCV003558682
NM_201525.4(ADGRG1):c.1744A>T (p.Met582Leu) SNV
Germline		 Chr16:57661776 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8078845 rs_775708467

4 SubmittersRCV001119263RCV001438114
NM_201525.4(ADGRG1):c.2048C>T (p.Ser683Leu) SNV
Germline		 Chr16:57663566 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA281583694 rs_1012168637

3 SubmittersRCV001121266RCV002556607RCV004978035
NM_201525.4(ADGRG1):c.*549C>T SNV
Germline		 Chr16:57664131 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA281584242 rs_74573309

2 SubmittersRCV001119360RCV003405328
NM_201525.4(ADGRG1):c.1017+11G>A SNV
Germline		 Chr16:57656003 Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8078594 rs_199806423

2 SubmittersRCV001116244RCV002069872
NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe) SNV
Unknown		 Chr16:57661957 Likely pathogenic Bilateral frontoparietal polymicrogyria No Assertion Criteria Provided
 CA396054357 rs_2148610313

1 SubmittersRCV001255739
NM_201525.4(ADGRG1):c.1141C>T (p.His381Tyr) SNV
Germline		 Chr16:57656591 Likely pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter
 CA8078654 rs_777643880

1 SubmittersRCV001731171
NM_201525.4(ADGRG1):c.1468G>A (p.Glu490Lys) SNV
Germline		 Chr16:57659594 Likely pathogenic Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Single Submitter
 CA281580622 rs_556518689

2 SubmittersRCV002034421RCV003328489
NM_201525.4(ADGRG1):c.1486C>T (p.Arg496Ter) SNV
Germline		 Chr16:57659612 Pathogenic Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8078763 rs_746634404

2 SubmittersRCV001870658RCV003222356
NM_201525.4(ADGRG1):c.531C>A (p.Cys177Ter) SNV
Germline		 Chr16:57653246 Pathogenic/Likely pathogenic Condition: not provided
Bilateral frontoparietal polymicrogyria
Polymicrogyria, bilateral perisylvian, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8078416 rs_774109607

2 SubmittersRCV002007286RCV005006305
NM_201525.4(ADGRG1):c.580C>T (p.Gln194Ter) SNV
Germline		 Chr16:57653295 Pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter
 CA396045021 rs_2148318641

1 SubmittersRCV002262171
NM_201525.4(ADGRG1):c.1131C>A (p.Cys377Ter) SNV
Germline		 Chr16:57656581 Pathogenic Condition: not provided
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Single Submitter
 CA396048906 rs_1597578721

2 SubmittersRCV002853017RCV005616489
NM_201525.4(ADGRG1):c.1457G>A (p.Trp486Ter) SNV
Germline		 Chr16:57659583 Pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter
 CA396050706 rs_2545466822

1 SubmittersRCV003317886
NM_201525.4(ADGRG1):c.209C>T (p.Pro70Leu) SNV
Germline		 Chr16:57651344 Pathogenic Bilateral frontoparietal polymicrogyria No Assertion Criteria Provided
 CA396042373 rs_2044043031

1 SubmittersRCV003328111
NM_201525.4(ADGRG1):c.429G>A (p.Trp143Ter) SNV
Germline		 Chr16:57651564 Likely pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter
 CA8078359 rs_755004355

1 SubmittersRCV003389379
NM_201525.4(ADGRG1):c.488-2A>G SNV
Germline		 Chr16:57653201 Likely pathogenic Condition: not provided
Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA396044334 rs_866608532

2 SubmittersRCV003878344RCV005013262
NM_201525.4(ADGRG1):c.781G>T (p.Glu261Ter) SNV
Germline		 Chr16:57655411 Pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter

1 SubmittersRCV004764673
NM_201525.4(ADGRG1):c.1046G>C (p.Trp349Ser) SNV
Germline		 Chr16:57656254 Likely pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter

1 SubmittersRCV004766741
NM_201525.4(ADGRG1):c.264C>A (p.Tyr88Ter) SNV
Germline		 Chr16:57651399 Likely pathogenic Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Single Submitter

1 SubmittersRCV005009951
NM_201525.4(ADGRG1):c.1000C>T (p.Gln334Ter) SNV
Germline		 Chr16:57655975 Likely pathogenic Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Single Submitter

1 SubmittersRCV005009953
NM_201525.4(ADGRG1):c.1063+1G>A SNV
Germline		 Chr16:57656272 Likely pathogenic Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Single Submitter

1 SubmittersRCV005009954
NM_201525.4(ADGRG1):c.1254C>A (p.Cys418Ter) SNV
Germline		 Chr16:57657459 Likely pathogenic Polymicrogyria, bilateral perisylvian, autosomal recessive
Bilateral frontoparietal polymicrogyria		 Criteria Provided
Single Submitter

1 SubmittersRCV005015715
NM_201525.4(ADGRG1):c.721C>T (p.Gln241Ter) SNV
Germline		 Chr16:57654086 Pathogenic Bilateral frontoparietal polymicrogyria Criteria Provided
Single Submitter

1 SubmittersRCV005252167