Total 156 pathogenic variants reported for Pierson syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) SNV
Germline
Chr3:49131129 Pathogenic/Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA124107 rs_121912488

5 SubmittersRCV000015629RCV001335017RCV001849266RCV002504793

NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter) SNV
Germline
Chr3:49126449 Pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter
CA124108 rs_121912489

3 SubmittersRCV000015631RCV000735771RCV003764576

NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter) SNV
Germline
Chr3:49130334 Pathogenic Pierson syndrome No Assertion Criteria Provided
CA124110 rs_121912490

1 SubmittersRCV000015632

NM_002292.4(LAMB2):c.737G>A (p.Arg246Gln) SNV
Germline
Chr3:49131128 Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter
CA124112 rs_121912491

2 SubmittersRCV000015633RCV005025058

NM_002292.4(LAMB2):c.440A>G (p.His147Arg) SNV
Germline
Chr3:49132135 Pathogenic/Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA128633 rs_387906644

3 SubmittersRCV000022640RCV002482898

NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter) SNV
Germline
Chr3:49124920 Pathogenic Pierson syndrome No Assertion Criteria Provided
CA346413 rs_730880125

1 SubmittersRCV000157282

NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=) SNV
Germline
Chr3:49121989 Conflicting classifications of pathogenicity not specified
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2393675 rs_148648480

3 SubmittersRCV000243237RCV000292740RCV000398762RCV000876599

NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) SNV
Germline
Chr3:49126004 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Condition: not provided
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Focal segmental glomerulosclerosis
Criteria Provided
Conflicting Classifications
CA2394336 rs_147076626

7 SubmittersRCV000544546RCV001699089RCV001149917RCV001149918RCV003891904RCV002294125

NM_002292.4(LAMB2):c.2152C>T (p.Leu718=) SNV
Germline
Chr3:49126159 Conflicting classifications of pathogenicity not specified
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394372 rs_756535650

3 SubmittersRCV000245548RCV000794720RCV005348085

NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) SNV
Germline
Chr3:49130250 Conflicting classifications of pathogenicity not specified
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Kidney disorder
Criteria Provided
Conflicting Classifications
CA2394669 rs_201999373

5 SubmittersRCV000245018RCV000262149RCV000316156RCV000875473RCV002294122

NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) SNV
Germline
Chr3:49121337 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2393554 rs_781092208

2 SubmittersRCV000268661RCV000370453RCV001465357

NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) SNV
Germline
Chr3:49121584 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2393599 rs_151292828

3 SubmittersRCV000326104RCV000364497RCV000649522RCV004730936

NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) SNV
Germline
Chr3:49123943 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2394010 rs_138540017

3 SubmittersRCV000302099RCV000340672RCV000541504RCV003430883

NM_002292.4(LAMB2):c.916-4A>G SNV
Germline
Chr3:49130864 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA10616343 rs_886058677

2 SubmittersRCV000291268RCV000327689RCV002523450

NM_002292.4(LAMB2):c.2720+13C>A SNV
Germline
Chr3:49125240 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2394237 rs_369359244

2 SubmittersRCV000276749RCV000331713RCV002520159

NM_002292.4(LAMB2):c.991C>T (p.Leu331=) SNV
Germline
Chr3:49130785 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2394734 rs_561241970

2 SubmittersRCV000321885RCV000376445RCV005213264

NM_002292.4(LAMB2):c.386-15C>T SNV
Germline
Chr3:49132204 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2394939 rs_117575041

2 SubmittersRCV000293315RCV000348499RCV002520161

NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp) SNV
Germline
Chr3:49132639 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2395047 rs_202057459

4 SubmittersRCV000271632RCV000366666RCV003922518RCV001516710RCV001753813

NM_002292.4(LAMB2):c.2322C>G (p.Thr774=) SNV
Germline
Chr3:49125989 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2394334 rs_142116851

3 SubmittersRCV000278236RCV000324025RCV000875623RCV003922517

NM_002292.4(LAMB2):c.2295C>T (p.Cys765=) SNV
Germline
Chr3:49126016 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2394342 rs_201289156

2 SubmittersRCV000284173RCV000378625RCV002520160

NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) SNV
Germline
Chr3:49131049 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Condition: not provided
Atypical hemolytic-uremic syndrome
Criteria Provided
Conflicting Classifications
CA2394793 rs_151251039

5 SubmittersRCV000287600RCV000382224RCV000529365RCV001795964RCV002294303

NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys) SNV
Germline
Chr3:49132402 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2394979 rs_140371771

4 SubmittersRCV000305973RCV000360815RCV000649516RCV003480613

NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp) SNV
Germline
Chr3:49122908 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2393804 rs_151037751

2 SubmittersRCV000309451RCV000407789RCV001476396

NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) SNV
Germline
Chr3:49124888 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2394163 rs_145465720

3 SubmittersRCV000304855RCV000341133RCV000537395RCV003950218

NM_002292.4(LAMB2):c.3798-1G>C SNV
Germline
Chr3:49123632 Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Single Submitter
CA352700432 rs_1131690793

1 SubmittersRCV003766768

NM_002292.4(LAMB2):c.1599-1G>T SNV
Germline
Chr3:49129153 Likely pathogenic Condition: not provided
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA352735218 rs_1330915067

2 SubmittersRCV000516764RCV002527493

NM_002292.4(LAMB2):c.4573+1G>A SNV
Germline
Chr3:49122703 Pathogenic/Likely pathogenic Condition: not provided
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA352691180 rs_1387723456

2 SubmittersRCV000519030RCV003766942

NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly) SNV
Germline
Chr3:49123238 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Condition: not provided
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2393867 rs_112933248

6 SubmittersRCV000559112RCV001145299RCV001145300RCV001764596RCV003952833

NM_002292.4(LAMB2):c.3797+5G>A SNV
Germline
Chr3:49123723 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2393960 rs_150213016

2 SubmittersRCV000542271

NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val) SNV
Germline
Chr3:49123978 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394016 rs_370877359

4 SubmittersRCV000548194RCV001149697RCV001149698RCV004984974

NM_002292.4(LAMB2):c.467G>A (p.Arg156His) SNV
Germline
Chr3:49131716 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA352751228 rs_1378409559

3 SubmittersRCV000544140RCV004553240

NM_002292.4(LAMB2):c.4227G>A (p.Val1409=) SNV
Germline
Chr3:49123050 Conflicting classifications of pathogenicity Condition: not provided
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2393828 rs_766376770

2 SubmittersRCV000591944RCV002062104

NM_002292.4(LAMB2):c.3109+1G>T SNV
Germline
Chr3:49124700 Likely pathogenic Pierson syndrome Criteria Provided
Single Submitter
CA352712801 rs_888830612

1 SubmittersRCV000612771

NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) SNV
Germline
Chr3:49123880 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Focal segmental glomerulosclerosis
LAMB2-related infantile-onset nephrotic syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2393992 rs_13082063

7 SubmittersRCV000649528RCV001149696RCV002294362RCV001149695RCV001662706

NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser) SNV
Germline
Chr3:49129938 Conflicting classifications of pathogenicity Condition: not provided
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2394631 rs_142402808

6 SubmittersRCV000658961RCV001087289RCV001150041RCV001150042RCV003965421

NM_002292.4(LAMB2):c.3640C>T (p.Arg1214Trp) SNV
Germline
Chr3:49123885 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2393997 rs_760524944

2 SubmittersRCV000700593RCV002533593

NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln) SNV
Germline
Chr3:49124865 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394155 rs_149653966

4 SubmittersRCV000700025RCV003953244RCV005348196

NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu) SNV
Germline
Chr3:49122973 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Condition: not provided
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2393816 rs_140968382

6 SubmittersRCV000696350RCV003140103RCV003411619

NM_002292.4(LAMB2):c.1931G>A (p.Arg644His) SNV
Germline
Chr3:49128545 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Condition: not provided
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2394452 rs_200738080

6 SubmittersRCV000699671RCV002263942RCV003992373

NM_002292.4(LAMB2):c.1403G>A (p.Arg468Gln) SNV
Germline
Chr3:49129841 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394614 rs_572289637

3 SubmittersRCV000707574RCV005357950

NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile) SNV
Germline
Chr3:49125304 Conflicting classifications of pathogenicity Condition: not provided
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2394255 rs_527639885

5 SubmittersRCV000712175RCV001088198RCV003945731

NM_002292.4(LAMB2):c.249+1G>A SNV
Germline
Chr3:49132490 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Condition: not provided
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2395007 rs_779317615

3 SubmittersRCV000761248RCV001772023RCV003768290

NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter) SNV
Germline
Chr3:49122182 Pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter
CA2393713 rs_775456607

1 SubmittersRCV000817580

NM_002292.4(LAMB2):c.4444C>T (p.Arg1482Trp) SNV
Germline
Chr3:49122833 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2393787 rs_755963903

3 SubmittersRCV000820493RCV002537473

NM_002292.4(LAMB2):c.2588G>A (p.Arg863His) SNV
Germline
Chr3:49125385 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394271 rs_146326783

3 SubmittersRCV000802733RCV004028118

NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu) SNV
Germline
Chr3:49126487 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394416 rs_373260991

3 SubmittersRCV000806839RCV003243319

NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=) SNV
Germline
Chr3:49121551 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Pierson syndrome
LAMB2-related disorder
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2393591 rs_139511264

3 SubmittersRCV000878748RCV001149477RCV003938400RCV001149478

NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu) SNV
Germline
Chr3:49126417 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2394405 rs_142860588

3 SubmittersRCV000877262RCV001145585RCV001145584RCV003975489

NM_002292.4(LAMB2):c.1305C>T (p.Ser435=) SNV
Germline
Chr3:49129939 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2394632 rs_144530798

3 SubmittersRCV000874254RCV001143914RCV001143915RCV003432839

NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp) SNV
Germline
Chr3:49131388 Conflicting classifications of pathogenicity Condition: not provided
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2394844 rs_144133177

4 SubmittersRCV000876120RCV001088975RCV003908327

NM_002292.4(LAMB2):c.2489-7C>T SNV
Germline
Chr3:49125491 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2394282 rs_374958213

2 SubmittersRCV000878392RCV001148353RCV001148354

NM_002292.4(LAMB2):c.915+6G>A SNV
Germline
Chr3:49130944 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2394767 rs_2071677

2 SubmittersRCV000873653RCV001145809RCV001145808

NM_002292.4(LAMB2):c.795G>A (p.Glu265=) SNV
Germline
Chr3:49131070 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2394795 rs_375953746

2 SubmittersRCV000951442RCV001145811RCV001145810

NM_002292.4(LAMB2):c.1391G>A (p.Arg464His) SNV
Germline
Chr3:49129853 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2394619 rs_188487818

3 SubmittersRCV000890553RCV001150039RCV001150040RCV003392678

NM_002292.4(LAMB2):c.76+10C>T SNV
Germline
Chr3:49132782 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related disorder
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2395067 rs_370554848

3 SubmittersRCV000955093RCV003903272RCV001148697RCV001148698

NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp) SNV
Germline
Chr3:49121833 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2393647 rs_200165604

2 SubmittersRCV001066146RCV002554483

NM_002292.4(LAMB2):c.2432G>A (p.Arg811His) SNV
Germline
Chr3:49125803 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2394302 rs_201223945

4 SubmittersRCV001071566

NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=) SNV
Germline
Chr3:49124027 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2394026 rs_186771094

3 SubmittersRCV001145383RCV001145384RCV001522733RCV003945868

NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=) SNV
Germline
Chr3:49124398 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2394090 rs_757491995

2 SubmittersRCV001147323RCV001147322RCV002557155

NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=) SNV
Germline
Chr3:49124449 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2394097 rs_369406683

2 SubmittersRCV001147325RCV001147324RCV002557156

NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr) SNV
Germline
Chr3:49126015 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2394340 rs_763101025

4 SubmittersRCV001149919RCV001149920RCV002483881

NM_002292.4(LAMB2):c.2262G>A (p.Leu754=) SNV
Germline
Chr3:49126049 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2394349 rs_756931255

2 SubmittersRCV001149922RCV001149921RCV002557225

NM_002292.4(LAMB2):c.1797C>T (p.Phe599=) SNV
Germline
Chr3:49128754 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2394492 rs_376785056

2 SubmittersRCV001145701RCV001145700RCV001486611

NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu) SNV
Germline
Chr3:49124501 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394103 rs_753249251

3 SubmittersRCV001246143RCV002570342

NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter) SNV
Germline
Chr3:49122758 Pathogenic Nephrotic syndrome
Pierson syndrome
Criteria Provided
Single Submitter
CA74476290 rs_974891221

2 SubmittersRCV001328152RCV004769974

NM_002292.4(LAMB2):c.1648C>T (p.Arg550Ter) SNV
Germline
Chr3:49129103 Pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA352734623 rs_1218889239

2 SubmittersRCV002570445RCV003142224

NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg) SNV
Germline
Chr3:49130806 Conflicting classifications of pathogenicity Pierson syndrome
Condition: not provided
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA352745117 rs_2045472442

5 SubmittersRCV001261592RCV001557926RCV002537622

NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val) SNV
Germline
Chr3:49125050 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394196 rs_753039246

3 SubmittersRCV001296476RCV002543049

NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr) SNV
Germline
Chr3:49124826 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA74480088 rs_769328932

3 SubmittersRCV001318635RCV005367831

NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) SNV
Germline
Chr3:49122704 Pathogenic Nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2393771 rs_376983109

3 SubmittersRCV001849740RCV003772391

NM_002292.4(LAMB2):c.2344+1G>A SNV
Germline
Chr3:49125966 Pathogenic/Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2394326 rs_140068188

2 SubmittersRCV001335012RCV005225384

NM_002292.4(LAMB2):c.3233G>A (p.Arg1078His) SNV
Germline
Chr3:49124489 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394100 rs_373712709

2 SubmittersRCV001370595RCV005590047

NM_002292.4(LAMB2):c.3109+1G>A SNV
Germline
Chr3:49124700 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA74479941 rs_888830612

2 SubmittersRCV001379904RCV003446734

NM_002292.4(LAMB2):c.3797+4C>T SNV
Germline
Chr3:49123724 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Kidney disorder
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2393961 rs_368346725

3 SubmittersRCV001484652RCV002294463RCV003946267

NM_002292.4(LAMB2):c.3533G>A (p.Arg1178His) SNV
Germline
Chr3:49123992 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA2394017 rs_565229873

3 SubmittersRCV001497089

NM_002292.4(LAMB2):c.4928A>G (p.Gln1643Arg) SNV
Germline
Chr3:49121856 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2393651 rs_201844235

2 SubmittersRCV001523568RCV005237872

NM_002292.4(LAMB2):c.3937C>T (p.Gln1313Ter) SNV
Germline
Chr3:49123492 Likely pathogenic Nephrotic syndrome
Pierson syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA352698840 rs_2045374191

2 SubmittersRCV001580293RCV004017851

NM_002292.4(LAMB2):c.4667C>T (p.Ala1556Val) SNV
Germline
Chr3:49122277 Conflicting classifications of pathogenicity Pierson syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2393739 rs_774045808

3 SubmittersRCV001733588RCV002077179RCV003407782

NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter) SNV
Germline
Chr3:49123930 Pathogenic Condition: not provided
LAMB2-related disorder
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2394006 rs_754597019

3 SubmittersRCV001783546RCV003407804RCV001885163

NM_002292.4(LAMB2):c.2833C>T (p.Gln945Ter) SNV
Germline
Chr3:49125057 Likely pathogenic Pierson syndrome Criteria Provided
Single Submitter
rs_2107639217

1 SubmittersRCV004764381

NM_002292.4(LAMB2):c.4150A>T (p.Met1384Leu) SNV
Germline
Chr3:49123206 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA352695860 rs_781135874

2 SubmittersRCV001974745RCV005370053

NM_002292.4(LAMB2):c.4858A>G (p.Ile1620Val) SNV
Germline
Chr3:49122009 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2393681 rs_778561883

2 SubmittersRCV001959654RCV004989001

NM_002292.4(LAMB2):c.1327C>T (p.His443Tyr) SNV
Germline
Chr3:49129917 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394627 rs_200732790

3 SubmittersRCV001879676RCV003968608RCV005369996

NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro) SNV
Germline
Chr3:49128762 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394493 rs_764346736

3 SubmittersRCV001864434RCV002551112

NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys) SNV
Germline
Chr3:49123323 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2393886 rs_775469931

3 SubmittersRCV002042035RCV004038875

NM_002292.4(LAMB2):c.3641G>A (p.Arg1214Gln) SNV
Germline
Chr3:49123884 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Inborn genetic diseases
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2393996 rs_202135107

3 SubmittersRCV001963351RCV004044404RCV003958448

NM_002292.4(LAMB2):c.3798-16C>A SNV
Germline
Chr3:49123647 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA2393944 rs_373780035

2 SubmittersRCV002200087

NM_002292.4(LAMB2):c.1575C>T (p.Asp525=) SNV
Germline
Chr3:49129268 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Focal segmental glomerulosclerosis
Criteria Provided
Conflicting Classifications
CA2394555 rs_138230622

2 SubmittersRCV002157834RCV002294510

NM_002292.4(LAMB2):c.4822C>T (p.Gln1608Ter) SNV
Germline
Chr3:49122045 Pathogenic/Likely pathogenic Condition: not provided
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2393688 rs_777742373

2 SubmittersRCV002247199RCV005025738

NM_002292.4(LAMB2):c.4759C>T (p.Leu1587=) SNV
Germline
Chr3:49122185 Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2393714 rs_760451762

3 SubmittersRCV002294641RCV003774989RCV003903666

NM_002292.4(LAMB2):c.2369C>G (p.Ser790Ter) SNV
Germline
Chr3:49125866 Pathogenic/Likely pathogenic Kidney disorder
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA352724767 rs_2472543506

2 SubmittersRCV002294679RCV005213653

NM_002292.4(LAMB2):c.4923+2T>G SNV
Germline
Chr3:49121942 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter
CA352686324 rs_1575527152

1 SubmittersRCV002664311

NM_002292.4(LAMB2):c.986G>A (p.Arg329His) SNV
Germline
Chr3:49130790 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA74488041 rs_909274897

2 SubmittersRCV002671624RCV003273979

NM_002292.4(LAMB2):c.2766C>T (p.Gly922=) SNV
Germline
Chr3:49125124 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
LAMB2-related disorder
Criteria Provided
Conflicting Classifications
CA2394211 rs_576108341

3 SubmittersRCV002663079RCV003961104

NM_002292.4(LAMB2):c.1413A>G (p.Gln471=) SNV
Germline
Chr3:49129709 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA433636175 rs_2472551994

2 SubmittersRCV002676958

NM_002292.4(LAMB2):c.3251G>A (p.Trp1084Ter) SNV
Germline
Chr3:49124471 Pathogenic LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Single Submitter
CA352710838 rs_1180200867

1 SubmittersRCV002731317

NM_002292.4(LAMB2):c.1001G>A (p.Arg334His) SNV
Germline
Chr3:49130775 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2394731 rs_773981655

2 SubmittersRCV002890387RCV004642056

NM_002292.4(LAMB2):c.1873C>T (p.Leu625=) SNV
Germline
Chr3:49128678 Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA74485379 rs_569372725

2 SubmittersRCV002982847

NM_002292.4(LAMB2):c.3328-1G>C SNV
Germline
Chr3:49124287 Pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter
CA352709827 rs_2472538323

1 SubmittersRCV003032716

NM_002292.4(LAMB2):c.2018+2T>C SNV
Germline
Chr3:49128456 Pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter
CA352730756 rs_2472548507

1 SubmittersRCV003032717

NM_002292.4(LAMB2):c.4171G>C (p.Gly1391Arg) SNV
Germline
Chr3:49123185 Conflicting classifications of pathogenicity Inborn genetic diseases
LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Conflicting Classifications
CA352695688 rs_1268541922

2 SubmittersRCV002747583RCV003777708

NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter) SNV
Germline
Chr3:49125479 Pathogenic Pierson syndrome Criteria Provided
Single Submitter
CA352721030 rs_2472542236

1 SubmittersRCV003225698

NM_002292.4(LAMB2):c.1405+1G>A SNV
Germline
Chr3:49129838 Pathogenic LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Pierson syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2394611 rs_780041521

2 SubmittersRCV003778161RCV003388360

NM_002292.4(LAMB2):c.1405C>T (p.Arg469Ter) SNV
Germline
Chr3:49129839 Pathogenic/Likely pathogenic Pierson syndrome
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_746765362

2 SubmittersRCV004577607RCV005030057

NM_002292.4(LAMB2):c.3094C>T (p.Arg1032Ter) SNV
Germline
Chr3:49124716 Pathogenic LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Single Submitter
CA352712990 rs_2045391529

1 SubmittersRCV003803884

NM_002292.4(LAMB2):c.4781+1G>A SNV
Germline
Chr3:49122162 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005024682

NM_002292.4(LAMB2):c.4740G>A (p.Val1580=) SNV
Germline
Chr3:49122204 Conflicting classifications of pathogenicity Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024684

NM_002292.4(LAMB2):c.3904C>T (p.Arg1302Ter) SNV
Germline
Chr3:49123525 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005037102

NM_002292.4(LAMB2):c.3110-1G>A SNV
Germline
Chr3:49124613 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005024713

NM_002292.4(LAMB2):c.1816C>T (p.Gln606Ter) SNV
Germline
Chr3:49128735 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005024735

NM_002292.4(LAMB2):c.1519-2A>C SNV
Germline
Chr3:49129326 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005037121

NM_002292.4(LAMB2):c.385+1G>A SNV
Germline
Chr3:49132269 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005037127

NM_002292.4(LAMB2):c.1A>T (p.Met1Leu) SNV
Germline
Chr3:49132867 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005024775

NM_002292.4(LAMB2):c.2557C>T (p.Arg853Ter) SNV
Germline
Chr3:49125416 Pathogenic LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005219336

NM_002292.4(LAMB2):c.4782-1G>A SNV
Germline
Chr3:49122086 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005213148

NM_002292.4(LAMB2):c.3016C>T (p.Gln1006Ter) SNV
Germline
Chr3:49124794 Pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005220578

NM_002292.4(LAMB2):c.77-1G>A SNV
Germline
Chr3:49132664 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005227048

NM_002292.4(LAMB2):c.2848C>T (p.Gln950Ter) SNV
Germline
Chr3:49125042 Pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005222512

NM_002292.4(LAMB2):c.1165T>G (p.Cys389Gly) SNV
Germline
Chr3:49130291 Likely pathogenic Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005229689

NM_002292.4(LAMB2):c.799C>T (p.Arg267Ter) SNV
Germline
Chr3:49131066 Pathogenic LAMB2-related infantile-onset nephrotic syndrome
Pierson syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005412199