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 SubmittersRCV000015629 RCV001335017 RCV001849266 RCV002504793
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 SubmittersRCV000015631 RCV000735771 RCV003764576
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 SubmittersRCV000015633 RCV005025058
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 SubmittersRCV000022640 RCV002482898
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 SubmittersRCV000243237 RCV000292740 RCV000398762 RCV000876599
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 SubmittersRCV000544546 RCV001699089 RCV001149917 RCV001149918 RCV003891904 RCV002294125
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 SubmittersRCV000245548 RCV000794720 RCV005348085
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 SubmittersRCV000245018 RCV000262149 RCV000316156 RCV000875473 RCV002294122
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 SubmittersRCV000268661 RCV000370453 RCV001465357
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 SubmittersRCV000326104 RCV000364497 RCV000649522 RCV004730936
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 SubmittersRCV000302099 RCV000340672 RCV000541504 RCV003430883
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 SubmittersRCV000291268 RCV000327689 RCV002523450
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 SubmittersRCV000276749 RCV000331713 RCV002520159
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 SubmittersRCV000321885 RCV000376445 RCV005213264
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 SubmittersRCV000293315 RCV000348499 RCV002520161
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 SubmittersRCV000271632 RCV000366666 RCV003922518 RCV001516710 RCV001753813
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 SubmittersRCV000278236 RCV000324025 RCV000875623 RCV003922517
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 SubmittersRCV000284173 RCV000378625 RCV002520160
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 SubmittersRCV000287600 RCV000382224 RCV000529365 RCV001795964 RCV002294303
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 SubmittersRCV000305973 RCV000360815 RCV000649516 RCV003480613
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 SubmittersRCV000309451 RCV000407789 RCV001476396
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 SubmittersRCV000304855 RCV000341133 RCV000537395 RCV003950218
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 SubmittersRCV000516764 RCV002527493
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 SubmittersRCV000519030 RCV003766942
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 SubmittersRCV000559112 RCV001145299 RCV001145300 RCV001764596 RCV003952833
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 SubmittersRCV000548194 RCV001149697 RCV001149698 RCV004984974
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 SubmittersRCV000544140 RCV004553240
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 SubmittersRCV000591944 RCV002062104
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 SubmittersRCV000649528 RCV001149696 RCV002294362 RCV001149695 RCV001662706
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 SubmittersRCV000658961 RCV001087289 RCV001150041 RCV001150042 RCV003965421
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 SubmittersRCV000700593 RCV002533593
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 SubmittersRCV000700025 RCV003953244 RCV005348196
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 SubmittersRCV000696350 RCV003140103 RCV003411619
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 SubmittersRCV000699671 RCV002263942 RCV003992373
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 SubmittersRCV000707574 RCV005357950
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 SubmittersRCV000712175 RCV001088198 RCV003945731
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 SubmittersRCV000761248 RCV001772023 RCV003768290
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 SubmittersRCV000820493 RCV002537473
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 SubmittersRCV000802733 RCV004028118
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 SubmittersRCV000806839 RCV003243319
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 SubmittersRCV000878748 RCV001149477 RCV003938400 RCV001149478
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 SubmittersRCV000877262 RCV001145585 RCV001145584 RCV003975489
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 SubmittersRCV000874254 RCV001143914 RCV001143915 RCV003432839
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 SubmittersRCV000876120 RCV001088975 RCV003908327
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 SubmittersRCV000878392 RCV001148353 RCV001148354
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 SubmittersRCV000873653 RCV001145809 RCV001145808
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 SubmittersRCV000951442 RCV001145811 RCV001145810
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 SubmittersRCV000890553 RCV001150039 RCV001150040 RCV003392678
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 SubmittersRCV000955093 RCV003903272 RCV001148697 RCV001148698
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 SubmittersRCV001066146 RCV002554483
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 SubmittersRCV001145383 RCV001145384 RCV001522733 RCV003945868
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 SubmittersRCV001147323 RCV001147322 RCV002557155
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 SubmittersRCV001147325 RCV001147324 RCV002557156
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 SubmittersRCV001149919 RCV001149920 RCV002483881
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 SubmittersRCV001149922 RCV001149921 RCV002557225
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 SubmittersRCV001145701 RCV001145700 RCV001486611
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 SubmittersRCV001246143 RCV002570342
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 SubmittersRCV001328152 RCV004769974
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 SubmittersRCV002570445 RCV003142224
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 SubmittersRCV001261592 RCV001557926 RCV002537622
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 SubmittersRCV001296476 RCV002543049
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 SubmittersRCV001318635 RCV005367831
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 SubmittersRCV001849740 RCV003772391
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 SubmittersRCV001335012 RCV005225384
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 SubmittersRCV001370595 RCV005590047
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 SubmittersRCV001379904 RCV003446734
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 SubmittersRCV001484652 RCV002294463 RCV003946267
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 SubmittersRCV001523568 RCV005237872
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 SubmittersRCV001580293 RCV004017851
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 SubmittersRCV001733588 RCV002077179 RCV003407782
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 SubmittersRCV001783546 RCV003407804 RCV001885163
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 SubmittersRCV001974745 RCV005370053
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 SubmittersRCV001959654 RCV004989001
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 SubmittersRCV001879676 RCV003968608 RCV005369996
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 SubmittersRCV001864434 RCV002551112
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 SubmittersRCV002042035 RCV004038875
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 SubmittersRCV001963351 RCV004044404 RCV003958448
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 SubmittersRCV002157834 RCV002294510
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 SubmittersRCV002247199 RCV005025738
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 SubmittersRCV002294641 RCV003774989 RCV003903666
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 SubmittersRCV002294679 RCV005213653
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 SubmittersRCV002671624 RCV003273979
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 SubmittersRCV002663079 RCV003961104
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 SubmittersRCV002890387 RCV004642056
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 SubmittersRCV002747583 RCV003777708
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 SubmittersRCV003778161 RCV003388360
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 SubmittersRCV004577607 RCV005030057
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

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 SubmittersRCV000015629 RCV001335017 RCV001849266 RCV002504793

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 SubmittersRCV000015631 RCV000735771 RCV003764576

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 SubmittersRCV000015633 RCV005025058

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 SubmittersRCV000022640 RCV002482898

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 SubmittersRCV000243237 RCV000292740 RCV000398762 RCV000876599

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 SubmittersRCV000544546 RCV001699089 RCV001149917 RCV001149918 RCV003891904 RCV002294125

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 SubmittersRCV000245548 RCV000794720 RCV005348085

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 SubmittersRCV000245018 RCV000262149 RCV000316156 RCV000875473 RCV002294122

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 SubmittersRCV000268661 RCV000370453 RCV001465357

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 SubmittersRCV000326104 RCV000364497 RCV000649522 RCV004730936

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 SubmittersRCV000302099 RCV000340672 RCV000541504 RCV003430883

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 SubmittersRCV000291268 RCV000327689 RCV002523450

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 SubmittersRCV000276749 RCV000331713 RCV002520159

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 SubmittersRCV000321885 RCV000376445 RCV005213264

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 SubmittersRCV000293315 RCV000348499 RCV002520161

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 SubmittersRCV000271632 RCV000366666 RCV003922518 RCV001516710 RCV001753813

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 SubmittersRCV000278236 RCV000324025 RCV000875623 RCV003922517

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 SubmittersRCV000284173 RCV000378625 RCV002520160

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 SubmittersRCV000287600 RCV000382224 RCV000529365 RCV001795964 RCV002294303

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 SubmittersRCV000305973 RCV000360815 RCV000649516 RCV003480613

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 SubmittersRCV000309451 RCV000407789 RCV001476396

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 SubmittersRCV000304855 RCV000341133 RCV000537395 RCV003950218

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 SubmittersRCV000516764 RCV002527493

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 SubmittersRCV000519030 RCV003766942

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 SubmittersRCV000559112 RCV001145299 RCV001145300 RCV001764596 RCV003952833

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 SubmittersRCV000548194 RCV001149697 RCV001149698 RCV004984974

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 SubmittersRCV000544140 RCV004553240

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 SubmittersRCV000591944 RCV002062104

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 SubmittersRCV000649528 RCV001149696 RCV002294362 RCV001149695 RCV001662706

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 SubmittersRCV000658961 RCV001087289 RCV001150041 RCV001150042 RCV003965421

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 SubmittersRCV000700593 RCV002533593

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 SubmittersRCV000700025 RCV003953244 RCV005348196

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 SubmittersRCV000696350 RCV003140103 RCV003411619

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 SubmittersRCV000699671 RCV002263942 RCV003992373

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 SubmittersRCV000707574 RCV005357950

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 SubmittersRCV000712175 RCV001088198 RCV003945731

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 SubmittersRCV000761248 RCV001772023 RCV003768290

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 SubmittersRCV000820493 RCV002537473

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 SubmittersRCV000802733 RCV004028118

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 SubmittersRCV000806839 RCV003243319

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 SubmittersRCV000878748 RCV001149477 RCV003938400 RCV001149478

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 SubmittersRCV000877262 RCV001145585 RCV001145584 RCV003975489

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 SubmittersRCV000874254 RCV001143914 RCV001143915 RCV003432839

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 SubmittersRCV000876120 RCV001088975 RCV003908327

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 SubmittersRCV000878392 RCV001148353 RCV001148354

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 SubmittersRCV000873653 RCV001145809 RCV001145808

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 SubmittersRCV000951442 RCV001145811 RCV001145810

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 SubmittersRCV000890553 RCV001150039 RCV001150040 RCV003392678

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 SubmittersRCV000955093 RCV003903272 RCV001148697 RCV001148698

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 SubmittersRCV001066146 RCV002554483

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 SubmittersRCV001145383 RCV001145384 RCV001522733 RCV003945868

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 SubmittersRCV001147323 RCV001147322 RCV002557155

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 SubmittersRCV001147325 RCV001147324 RCV002557156

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 SubmittersRCV001149919 RCV001149920 RCV002483881

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 SubmittersRCV001149922 RCV001149921 RCV002557225

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 SubmittersRCV001145701 RCV001145700 RCV001486611

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 SubmittersRCV001246143 RCV002570342

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 SubmittersRCV001328152 RCV004769974

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 SubmittersRCV002570445 RCV003142224

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 SubmittersRCV001261592 RCV001557926 RCV002537622

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 SubmittersRCV001296476 RCV002543049

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 SubmittersRCV001318635 RCV005367831

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 SubmittersRCV001849740 RCV003772391

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 SubmittersRCV001335012 RCV005225384

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 SubmittersRCV001370595 RCV005590047

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 SubmittersRCV001379904 RCV003446734

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 SubmittersRCV001484652 RCV002294463 RCV003946267

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 SubmittersRCV001523568 RCV005237872

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 SubmittersRCV001580293 RCV004017851

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 SubmittersRCV001733588 RCV002077179 RCV003407782

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 SubmittersRCV001783546 RCV003407804 RCV001885163

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 SubmittersRCV001974745 RCV005370053

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 SubmittersRCV001959654 RCV004989001

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 SubmittersRCV001879676 RCV003968608 RCV005369996

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 SubmittersRCV001864434 RCV002551112

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 SubmittersRCV002042035 RCV004038875

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 SubmittersRCV001963351 RCV004044404 RCV003958448

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 SubmittersRCV002157834 RCV002294510

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 SubmittersRCV002247199 RCV005025738

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 SubmittersRCV002294641 RCV003774989 RCV003903666

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 SubmittersRCV002294679 RCV005213653

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 SubmittersRCV002671624 RCV003273979

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 SubmittersRCV002663079 RCV003961104

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 SubmittersRCV002890387 RCV004642056

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 SubmittersRCV002747583 RCV003777708

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 SubmittersRCV003778161 RCV003388360

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 SubmittersRCV004577607 RCV005030057

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