Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	SNV Germline	Chr16:5078789	Pathogenic/Likely pathogenic	ALG1-congenital disorder of glycosylation Condition: not provided Inborn genetic diseases Congenital disorder of glycosylation Finnish congenital nephrotic syndrome Encephalopathy ALG12-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA223556	rs_28939378	20 SubmittersRCV000004989 RCV000081987 RCV000210565 RCV000606536 RCV000655875 RCV001526585 RCV003483423
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)	SNV Germline	Chr1:179575806	Conflicting classifications of pathogenicity	Nephrotic syndrome, type 2 Condition: not provided Focal segmental glomerulosclerosis not specified NPHS2-related disorder Finnish congenital nephrotic syndrome Steroid-resistant nephrotic syndrome	Criteria Provided Conflicting Classifications	CA117451	rs_74315344	16 SubmittersRCV000005696 RCV000588524 RCV002293977 RCV003150926 RCV003914811 RCV003407281 RCV001276841
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)	SNV Germline	Chr19:35831358	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250034	rs_137853042	12 SubmittersRCV000007270 RCV001390942
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)	SNV Germline	Chr19:35848142	Conflicting classifications of pathogenicity	Proteinuria not specified Finnish congenital nephrotic syndrome Congenital nephrotic syndrome Condition: not provided Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA200833	rs_28939695	9 SubmittersRCV000157397 RCV000174106 RCV000490526 RCV001123648 RCV000879499 RCV002294056
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	SNV Germline	Chr19:35831056	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250037	rs_267606919	20 SubmittersRCV000007276 RCV000808977 RCV001328091
NM_004646.4(NPHS1):c.793T>C (p.Cys265Arg)	SNV Germline	Chr19:35849283	Pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250040	rs_267606917	1 SubmittersRCV000007277
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	SNV Germline	Chr19:35842421	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA250042	rs_267606918	6 SubmittersRCV000007278 RCV001851717
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	SNV Germline	Chr5:147828115	Conflicting classifications of pathogenicity; association; risk factor	Pancreatitis, chronic, susceptibility to Hereditary pancreatitis Condition: not provided Finnish congenital nephrotic syndrome Tropical pancreatitis Pancreatitis	Criteria Provided Conflicting Classifications	CA123440	rs_17107315	27 SubmittersRCV000014768 RCV000119030 RCV000656981 RCV001258230 RCV002283443 RCV002468556
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	SNV Germline	Chr2:165941111	Pathogenic/Likely pathogenic	Nephronophthisis 12 Condition: not provided Nephronophthisis Jeune thoracic dystrophy Infantile nephronophthisis Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Retinal dystrophy Finnish congenital nephrotic syndrome Renal dysplasia and retinal aplasia Nephrotic syndrome See cases TTC21B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA259949	rs_140511594	22 SubmittersRCV000023924 RCV000681870 RCV000685092 RCV000857219 RCV000763456 RCV001074967 RCV000786982 RCV001003236 RCV001328175 RCV002251925 RCV004528134
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)	SNV Germline	Chr19:35848788	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA250079	rs_386833861	4 SubmittersRCV000049830 RCV003421960
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu)	SNV Germline	Chr19:35848767	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA250081	rs_386833862	3 SubmittersRCV000049831 RCV003441734
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	SNV Germline	Chr19:35848759	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250083	rs_386833863	10 SubmittersRCV000049832 RCV001063172 RCV001849301
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)	SNV Germline	Chr19:35848711	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250085	rs_386833864	7 SubmittersRCV000049833 RCV001065065
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)	SNV Germline	Chr19:35848708	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Focal segmental glomerulosclerosis NPHS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250087	rs_386833865	12 SubmittersRCV000049834 RCV001380444 RCV002294007 RCV003415816
NM_004646.4(NPHS1):c.1102C>T (p.Pro368Ser)	SNV Germline	Chr19:35848705	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250092	rs_386833866	3 SubmittersRCV000049836 RCV003556131
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)	SNV Germline	Chr19:35848704	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250094	rs_386833867	5 SubmittersRCV000049837 RCV001853052
NM_004646.4(NPHS1):c.1126C>G (p.Leu376Val)	SNV Not provided	Chr19:35848681	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250096	rs_386833868	1 SubmittersRCV000049838
NM_004646.4(NPHS1):c.1134G>A (p.Trp378Ter)	SNV Not provided	Chr19:35848673	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250098	rs_386833869	1 SubmittersRCV000049839
NM_004646.4(NPHS1):c.1135C>T (p.Arg379Trp)	SNV Germline	Chr19:35848672	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Single Submitter	CA250101	rs_386833871	2 SubmittersRCV000049840 RCV001380443
NM_004646.4(NPHS1):c.1138C>T (p.Gln380Ter)	SNV Not provided	Chr19:35848669	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250104	rs_386833872	1 SubmittersRCV000049842
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)	SNV Germline	Chr19:35848349	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250107	rs_386833874	9 SubmittersRCV000049843 RCV001040489
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)	SNV Unknown	Chr19:35848334	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250109	rs_142008044	3 SubmittersRCV000049845
NM_004646.4(NPHS1):c.1250G>T (p.Cys417Phe)	SNV Not provided	Chr19:35848318	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250111	rs_386833875	1 SubmittersRCV000049846
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)	SNV Germline	Chr19:35848144	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA250116	rs_386833879	5 SubmittersRCV000049850 RCV002513690
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	SNV Germline	Chr19:35848102	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome Kidney disorder	Criteria Provided Multiple Submitters No Conflicts	CA250119	rs_386833880	14 SubmittersRCV000049851 RCV001388275 RCV001849302 RCV002294008
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr)	SNV Unknown	Chr19:35848087	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA250121	rs_386833881	2 SubmittersRCV000049852
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)	SNV Germline	Chr19:35846080	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA250125	rs_386833884	6 SubmittersRCV000049855 RCV002513691
NM_004646.4(NPHS1):c.1583G>T (p.Cys528Phe)	SNV Not provided	Chr19:35846052	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250127	rs_386833885	1 SubmittersRCV000049856
NM_004646.4(NPHS1):c.1672C>T (p.Arg558Cys)	SNV Not provided	Chr19:35845754	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250129	rs_386833886	1 SubmittersRCV000049857
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)	SNV Germline	Chr19:35845725	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Infantile Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250131	rs_386833887	9 SubmittersRCV000049858 RCV000992445 RCV003407431
NM_004646.4(NPHS1):c.1707C>G (p.Ser569Arg)	SNV Not provided	Chr19:35845719	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250134	rs_386833888	1 SubmittersRCV000049859
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)	SNV Germline	Chr19:35845711	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250136	rs_386833889	5 SubmittersRCV000049860 RCV000487117
NM_004646.4(NPHS1):c.1724C>A (p.Pro575Gln)	SNV Not provided	Chr19:35845702	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250138	rs_386833890	1 SubmittersRCV000049861
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)	SNV Germline	Chr19:35845538	Pathogenic	Finnish congenital nephrotic syndrome Nephrotic syndrome	Criteria Provided Single Submitter	CA250141	rs_386833892	3 SubmittersRCV000049863 RCV001849304
NM_004646.4(NPHS1):c.1801G>C (p.Gly601Arg)	SNV Not provided	Chr19:35845497	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250143	rs_386833893	1 SubmittersRCV000049864
NM_004646.4(NPHS1):c.1829T>A (p.Leu610Gln)	SNV Not provided	Chr19:35845469	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250146	rs_386833894	1 SubmittersRCV000049865
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	SNV Germline	Chr19:35845430	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250148	rs_386833895	13 SubmittersRCV000049866 RCV000811777 RCV001849305
NM_004646.4(NPHS1):c.1905C>T (p.Ser635=)	SNV Not provided	Chr19:35845393	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250150	rs_386833896	1 SubmittersRCV000049867
NM_004646.4(NPHS1):c.191G>C (p.Trp64Ser)	SNV Not provided	Chr19:35851540	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250153	rs_386833897	1 SubmittersRCV000049868
NM_004646.4(NPHS1):c.1928T>C (p.Leu643Pro)	SNV Unknown	Chr19:35845370	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Congenital nephrotic syndrome	No Assertion Criteria Provided	CA250155	rs_386833898	2 SubmittersRCV000049869 RCV001003824
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)	SNV Germline	Chr19:35844436	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250158	rs_386833899	4 SubmittersRCV000049870 RCV002514254
NM_004646.4(NPHS1):c.2019C>A (p.Asn673Lys)	SNV Not provided	Chr19:35844371	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250161	rs_191807913	1 SubmittersRCV000049871
NM_004646.4(NPHS1):c.2043G>T (p.Trp681Cys)	SNV Not provided	Chr19:35844347	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250163	rs_386833900	1 SubmittersRCV000049872
NM_004646.4(NPHS1):c.2071+2T>C	SNV Germline	Chr19:35844317	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Infantile Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250165	rs_386833901	5 SubmittersRCV000049873 RCV001376868 RCV003407432
NM_004646.4(NPHS1):c.2072-6C>G	SNV Germline	Chr19:35844249	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA250166	rs_200253809	4 SubmittersRCV000049874 RCV001379644
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly)	SNV Germline	Chr19:35844189	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250167	rs_386833902	3 SubmittersRCV000049875
NM_004646.4(NPHS1):c.2171C>G (p.Ser724Cys)	SNV Not provided	Chr19:35844144	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250171	rs_386833905	1 SubmittersRCV000049878
NM_004646.4(NPHS1):c.2216C>T (p.Ala739Val)	SNV Not provided	Chr19:35843590	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250174	rs_386833907	1 SubmittersRCV000049880
NM_004646.4(NPHS1):c.2225T>C (p.Ile742Thr)	SNV Not provided	Chr19:35843581	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250176	rs_386833908	1 SubmittersRCV000049881
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	SNV Germline	Chr19:35843579	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250178	rs_386833909	10 SubmittersRCV000049882 RCV000797708 RCV001328086
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)	SNV Germline	Chr19:35842481	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250181	rs_386833911	7 SubmittersRCV000049884 RCV000793793 RCV001328089
NM_004646.4(NPHS1):c.2405G>C (p.Arg802Pro)	SNV Not provided	Chr19:35842480	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250183	rs_114203578	1 SubmittersRCV000049885
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	SNV Germline	Chr19:35842468	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250185	rs_386833912	9 SubmittersRCV000049886 RCV000712426
NM_004646.4(NPHS1):c.2442C>G (p.Tyr814Ter)	SNV Not provided	Chr19:35842443	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250187	rs_386833913	1 SubmittersRCV000049887
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)	SNV Germline	Chr19:35842394	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided NPHS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250191	rs_386833915	6 SubmittersRCV000049889 RCV001853054 RCV003415818
NM_004646.4(NPHS1):c.2495T>C (p.Leu832Pro)	SNV Not provided	Chr19:35842390	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250193	rs_386833916	1 SubmittersRCV000049890
NM_004646.4(NPHS1):c.2500G>T (p.Val834Phe)	SNV Not provided	Chr19:35842385	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250195	rs_386833917	1 SubmittersRCV000049891
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	SNV Germline	Chr19:35842191	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Nephrotic syndrome Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA250199	rs_386833920	8 SubmittersRCV000049894 RCV001328088 RCV001388273 RCV002251954
NM_004646.4(NPHS1):c.2625G>A (p.Trp875Ter)	SNV Not provided	Chr19:35842162	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250204	rs_386833923	1 SubmittersRCV000049897
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)	SNV Germline	Chr19:35841747	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250209	rs_386833926	4 SubmittersRCV000049900 RCV002513692
NM_004646.4(NPHS1):c.2815+5G>A	SNV Not provided	Chr19:35841710	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250212	rs_386833927	1 SubmittersRCV000049901
NM_004646.4(NPHS1):c.286C>G (p.Leu96Val)	SNV Germline	Chr19:35851373	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Single Submitter	CA250214	rs_386833929	2 SubmittersRCV000049903 RCV001853056
NM_004646.4(NPHS1):c.2927+1G>A	SNV Germline	Chr19:35839495	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Single Submitter	CA250216	rs_386833930	2 SubmittersRCV000049904 RCV001853057
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)	SNV Germline	Chr19:35851346	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Kidney disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA250218	rs_386833932	6 SubmittersRCV000049906 RCV002294009 RCV002513693
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)	SNV Germline	Chr19:35851340	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA250221	rs_386833933	8 SubmittersRCV000049907 RCV001169934 RCV003330420
NM_004646.4(NPHS1):c.3388-2A>G	SNV Not provided	Chr19:35831148	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250228	rs_386833938	1 SubmittersRCV000049912
NM_004646.4(NPHS1):c.3482G>T (p.Gly1161Val)	SNV Not provided	Chr19:35830956	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250231	rs_386833939	1 SubmittersRCV000049914
NM_004646.4(NPHS1):c.3595-2A>G	SNV Unknown	Chr19:35826647	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA250234	rs_386833940	2 SubmittersRCV000049915
NM_004646.4(NPHS1):c.398-1G>A	SNV Unknown	Chr19:35851090	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250236	rs_386833942	3 SubmittersRCV000049917
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)	SNV Germline	Chr19:35851019	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250237	rs_386833943	4 SubmittersRCV000049918 RCV001390971
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser)	SNV Unknown	Chr19:35851008	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA250240	rs_386833944	2 SubmittersRCV000049919
NM_004646.4(NPHS1):c.500C>T (p.Pro167Leu)	SNV Unknown	Chr19:35850987	Likely pathogenic	Finnish congenital nephrotic syndrome Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Nephrotic range proteinuria	No Assertion Criteria Provided	CA250243	rs_386833945	2 SubmittersRCV000049920 RCV001003825
NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn)	SNV Not provided	Chr19:35850975	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250245	rs_386833946	1 SubmittersRCV000049921
NM_004646.4(NPHS1):c.518T>A (p.Ile173Asn)	SNV Not provided	Chr19:35850969	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250251	rs_386833949	1 SubmittersRCV000049924
NM_004646.4(NPHS1):c.526+5G>C	SNV Not provided	Chr19:35850956	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250253	rs_386833950	1 SubmittersRCV000049925
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)	SNV Germline	Chr19:35850440	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250254	rs_386833951	5 SubmittersRCV000049926 RCV001853059
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter)	SNV Germline	Chr19:35850398	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250258	rs_386833953	4 SubmittersRCV000049928 RCV000812623
NM_004646.4(NPHS1):c.58+1G>T	SNV Not provided	Chr19:35851779	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250261	rs_386833954	1 SubmittersRCV000049929
NM_004646.4(NPHS1):c.609-2A>C	SNV Germline	Chr19:35849655	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250262	rs_386833955	3 SubmittersRCV000049930 RCV001034959
NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter)	SNV Germline	Chr19:35849570	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250267	rs_386833958	3 SubmittersRCV000049933 RCV001853060
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)	SNV Germline	Chr19:35849340	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250270	rs_386833959	3 SubmittersRCV000049934 RCV003556134
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)	SNV Germline	Chr19:35849310	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA250273	rs_386833960	5 SubmittersRCV000049935 RCV000996847 RCV002281898
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)	SNV Germline	Chr19:35849268	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250275	rs_386833961	4 SubmittersRCV000049936 RCV003320551
NM_004646.4(NPHS1):c.886G>A (p.Ala296Thr)	SNV Not provided	Chr19:35849102	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250277	rs_386833962	1 SubmittersRCV000049937
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys)	SNV Germline	Chr3:93900833	Conflicting classifications of pathogenicity	Thrombophilia due to protein S deficiency, autosomal dominant Thrombophilia due to protein S deficiency, autosomal recessive Protein S deficiency disease Finnish congenital nephrotic syndrome PROS1-related disorder	Criteria Provided Conflicting Classifications	CA211741	rs_41267007	6 SubmittersRCV000148752 RCV000470283 RCV000851862 RCV001258303 RCV003935257
NM_004646.4(NPHS1):c.3388-1G>A	SNV Germline	Chr19:35831147	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA346577	rs_730880176	1 SubmittersRCV000157403
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu)	SNV Germline	Chr19:35839550	Conflicting classifications of pathogenicity	Proteinuria Condition: not provided Inborn genetic diseases Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA346571	rs_730880175	4 SubmittersRCV000157401 RCV002515049 RCV002516361 RCV002498780
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)	SNV Germline	Chr19:35845496	Conflicting classifications of pathogenicity	Proteinuria Finnish congenital nephrotic syndrome Condition: not provided Focal segmental glomerulosclerosis Congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA346568	rs_114615449	7 SubmittersRCV000157400 RCV000354078 RCV000879498 RCV002294058 RCV001094540
NM_004646.4(NPHS1):c.1756A>G (p.Arg586Gly)	SNV Germline	Chr19:35845670	Pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA346566	rs_730880174	1 SubmittersRCV000157399
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)	SNV Germline	Chr19:35846025	Conflicting classifications of pathogenicity	Proteinuria Finnish congenital nephrotic syndrome Condition: not provided Congenital nephrotic syndrome Focal segmental glomerulosclerosis NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA346563	rs_368913905	8 SubmittersRCV000157398 RCV000671934 RCV000910963 RCV001127722 RCV002294057 RCV003917541
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	SNV Germline	Chr1:179559710	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 2 Condition: not provided Nephrotic syndrome Steroid-resistant nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA199046	rs_530318579	13 SubmittersRCV000169033 RCV000517983 RCV001328093 RCV001273618 RCV003407626
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)	SNV Germline	Chr19:35831092	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250315	rs_150855173	6 SubmittersRCV000169477 RCV001220457
NM_004646.4(NPHS1):c.3312-1G>A	SNV Unknown	Chr19:35831372	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA250318	rs_786204729	1 SubmittersRCV000169569
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	SNV Germline	Chr19:35839418	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis Condition: not provided Nephrotic syndrome NPHS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250310	rs_138656762	11 SubmittersRCV000169078 RCV001195706 RCV001222912 RCV001328320 RCV003390881
NM_004646.4(NPHS1):c.2335-1G>A	SNV Germline	Chr19:35842551	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA250309	rs_150038620	16 SubmittersRCV000169038 RCV000599036
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)	SNV Germline	Chr19:35850407	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250312	rs_139598219	7 SubmittersRCV000169154 RCV000712433
NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro)	SNV Germline	Chr19:35831298	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA236021	rs_786205518	2 SubmittersRCV000171282 RCV001808442
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)	SNV Germline	Chr19:35842487	Conflicting classifications of pathogenicity	Familial idiopathic steroid-resistant nephrotic syndrome Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA067719	rs_114896482	6 SubmittersRCV000208010 RCV000675181 RCV000955035
NM_004646.4(NPHS1):c.528T>C (p.Ser176=)	SNV Germline	Chr19:35850444	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA352418	rs_539716201	3 SubmittersRCV000208400 RCV000923782 RCV001272301
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)	SNV Germline	Chr19:35839554	Conflicting classifications of pathogenicity	not specified Finnish congenital nephrotic syndrome Condition: not provided Congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9389997	rs_114849139	9 SubmittersRCV000245697 RCV000490421 RCV000906876 RCV001127647
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)	SNV Germline	Chr19:35851666	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9390924	rs_116617171	5 SubmittersRCV000490334 RCV000903298 RCV002271466
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)	SNV Germline	Chr19:35841784	Conflicting classifications of pathogenicity	not specified Finnish congenital nephrotic syndrome Condition: not provided Congenital nephrotic syndrome Kidney disorder NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9390034	rs_138173172	8 SubmittersRCV000242719 RCV000665537 RCV000883305 RCV001127648 RCV002294142 RCV003891928
NM_004646.4(NPHS1):c.1930+10C>T	SNV Germline	Chr19:35845358	Conflicting classifications of pathogenicity	not specified Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA9390290	rs_76131336	8 SubmittersRCV000253090 RCV000302690 RCV000712422 RCV001275393 RCV002294140
NM_004646.4(NPHS1):c.1170+8G>A	SNV Germline	Chr19:35848629	Conflicting classifications of pathogenicity	not specified Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390537	rs_140808195	8 SubmittersRCV000243599 RCV000332751 RCV000712418 RCV001272289 RCV002294136
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)	SNV Germline	Chr19:35849565	Conflicting classifications of pathogenicity	not specified Condition: not provided Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390698	rs_35238405	8 SubmittersRCV000248913 RCV000905150 RCV001272298 RCV002294149
NM_004646.4(NPHS1):c.597G>A (p.Glu199=)	SNV Germline	Chr19:35850375	Conflicting classifications of pathogenicity	not specified Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390753	rs_61731102	4 SubmittersRCV000245977 RCV000334981 RCV000898175 RCV001278569
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)	SNV Germline	Chr19:35851603	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390907	rs_140626538	7 SubmittersRCV000243577 RCV000588978 RCV001122045 RCV001272306 RCV002294139
NM_004646.4(NPHS1):c.59-5C>G	SNV Germline	Chr19:35851677	Conflicting classifications of pathogenicity	not specified Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Condition: not provided Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390925	rs_114595892	10 SubmittersRCV000253934 RCV001124813 RCV001262358 RCV000962680 RCV002294148
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)	SNV Germline	Chr19:35851795	Conflicting classifications of pathogenicity	not specified Finnish congenital nephrotic syndrome Condition: not provided Congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390942	rs_73928330	7 SubmittersRCV000244392 RCV000669644 RCV000904912 RCV001124814
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)	SNV Germline	Chr19:35850409	Conflicting classifications of pathogenicity	not specified Finnish congenital nephrotic syndrome Condition: not provided Congenital nephrotic syndrome Focal segmental glomerulosclerosis NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9390759	rs_145125791	12 SubmittersRCV000353631 RCV000665656 RCV000958774 RCV001125723 RCV002294214 RCV003920050
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)	SNV Germline	Chr19:35849604	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9390706	rs_115333628	7 SubmittersRCV000361967 RCV001125721 RCV001272299 RCV003417918
NM_004646.4(NPHS1):c.1926A>G (p.Val642=)	SNV Germline	Chr19:35845372	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390295	rs_114728208	5 SubmittersRCV000341078 RCV000889130 RCV001277287 RCV002294272
NM_004646.4(NPHS1):c.726C>T (p.Pro242=)	SNV Germline	Chr19:35849350	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA10642637	rs_886054352	2 SubmittersRCV003708517 RCV000279896
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)	SNV Germline	Chr19:35851616	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome Inborn genetic diseases Focal segmental glomerulosclerosis NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9390910	rs_375670819	6 SubmittersRCV000370301 RCV000889383 RCV001828323 RCV002521211 RCV002294275 RCV003922400
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)	SNV Germline	Chr19:35845788	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390367	rs_115444936	7 SubmittersRCV000366917 RCV000588114 RCV001277291
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys)	SNV Germline	Chr19:35849093	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9390606	rs_753476209	3 SubmittersRCV000319702 RCV001859938 RCV003114489
NM_004646.4(NPHS1):c.1440+11C>T	SNV Germline	Chr19:35848030	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390439	rs_750251097	2 SubmittersRCV003105871 RCV000326992
NM_004646.4(NPHS1):c.1110T>C (p.Val370=)	SNV Germline	Chr19:35848697	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390547	rs_116459838	5 SubmittersRCV000387172 RCV000889132 RCV001272291 RCV002294273
NM_004646.4(NPHS1):c.151C>T (p.Leu51=)	SNV Germline	Chr19:35851580	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Condition: not provided Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390896	rs_114385015	5 SubmittersRCV000306765 RCV001272305 RCV000904238 RCV002294274
NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=)	SNV Germline	Chr19:35839385	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9389963	rs_201263480	4 SubmittersRCV000387149 RCV000977399 RCV001277283 RCV003910262
NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter)	SNV Germline	Chr19:35844195	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9390226	rs_751809997	2 SubmittersRCV000409298 RCV001861372
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)	SNV Germline	Chr19:35848147	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041980	rs_1057516776	4 SubmittersRCV000412259 RCV001861377
NM_004646.4(NPHS1):c.1013-1G>C	SNV Unknown	Chr19:35848795	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA16041981	rs_1057517413	1 SubmittersRCV000410344
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)	SNV Germline	Chr19:35849122	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9390611	rs_781584590	5 SubmittersRCV000411580 RCV001850950
NM_004646.4(NPHS1):c.397+2T>C	SNV Unknown	Chr19:35851260	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA16041983	rs_1054950770	1 SubmittersRCV000410346
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met)	SNV Germline	Chr19:35831079	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome Congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9389754	rs_143145248	5 SubmittersRCV000428437 RCV001277277 RCV001124538
NM_004646.4(NPHS1):c.3481+4A>T	SNV Germline	Chr19:35831049	Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16608204	rs_1057524695	2 SubmittersRCV000442634 RCV003409609
NM_004646.4(NPHS1):c.2206G>A (p.Val736Met)	SNV Germline	Chr19:35844109	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405397157	rs_1131692245	2 SubmittersRCV000495969
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)	SNV Germline	Chr19:35846016	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Congenital nephrotic syndrome Condition: not provided NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9390387	rs_149598144	5 SubmittersRCV001277293 RCV001127721 RCV002060249 RCV003942697
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter)	SNV Germline	Chr19:35849274	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9390652	rs_749341977	4 SubmittersRCV000587459 RCV003558448
NM_004646.4(NPHS1):c.2663+2T>G	SNV Germline	Chr19:35842122	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA405390993	rs_762392183	6 SubmittersRCV000586590 RCV000712428
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)	SNV Germline	Chr19:35830889	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Kidney disorder	Criteria Provided Multiple Submitters No Conflicts		rs_767887213	6 SubmittersRCV000667636 RCV001066531 RCV002294364
NM_004646.4(NPHS1):c.3287-2A>G	SNV Germline	Chr19:35831502	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_758432802	2 SubmittersRCV000668394 RCV001378745
NM_004646.4(NPHS1):c.3287-11G>A	SNV Germline	Chr19:35831511	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1175331248	2 SubmittersRCV000669794 RCV003558502
NM_004646.4(NPHS1):c.1931-1G>A	SNV Unknown	Chr19:35844460	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_1555762381	1 SubmittersRCV000664936
NM_004646.4(NPHS1):c.2815+3A>G	SNV Unknown	Chr19:35841712	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_1223946044	2 SubmittersRCV000670036
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)	SNV Germline	Chr19:35848758	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_570069789	5 SubmittersRCV000665105 RCV001584530 RCV001855435
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)	SNV Germline	Chr19:35849060	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_763972372	4 SubmittersRCV000672110 RCV000821998
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)	SNV Germline	Chr19:35845712	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_755254230	4 SubmittersRCV000664718 RCV001731855 RCV002532034
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)	SNV Germline	Chr19:35830876	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided not specified NPHS1-related disorder	Criteria Provided Conflicting Classifications		rs_116700257	7 SubmittersRCV000669816 RCV000712431 RCV002282307 RCV003907931
NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala)	SNV Germline	Chr19:35835720	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_140673499	3 SubmittersRCV000672194 RCV002060826
NM_004646.4(NPHS1):c.1170+7C>T	SNV Unknown	Chr19:35848630	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_906888001	3 SubmittersRCV000666876
NM_004646.4(NPHS1):c.398-2A>G	SNV Germline	Chr19:35851091	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555763974	2 SubmittersRCV000665767 RCV001379711
NM_004646.4(NPHS1):c.3594+1G>A	SNV Unknown	Chr19:35830843	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555758856	2 SubmittersRCV000668341
NM_004646.4(NPHS1):c.3286+5G>A	SNV Unknown	Chr19:35831638	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_1555759089	2 SubmittersRCV000673085
NM_004646.4(NPHS1):c.3167-1G>A	SNV Unknown	Chr19:35831763	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_1009762900	1 SubmittersRCV000674816
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)	SNV Germline	Chr19:35839319	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_762184939	4 SubmittersRCV000668878 RCV002531212
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)	SNV Germline	Chr19:35842124	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_778951863	4 SubmittersRCV000670625 RCV003558508
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)	SNV Germline	Chr19:35845476	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided Congenital nephrotic syndrome Focal segmental glomerulosclerosis not specified	Criteria Provided Conflicting Classifications		rs_367976914	6 SubmittersRCV000671805 RCV000938880 RCV001125642 RCV002294365 RCV001662739
NM_004646.4(NPHS1):c.1757+1G>A	SNV Germline	Chr19:35845668	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555762591	2 SubmittersRCV000670078
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)	SNV Germline	Chr19:35845679	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_147641617	5 SubmittersRCV000669765 RCV000992446
NM_004646.4(NPHS1):c.1316-2A>G	SNV Unknown	Chr19:35848167	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_1555763090	1 SubmittersRCV000673975
NM_004646.4(NPHS1):c.58+1G>A	SNV Unknown	Chr19:35851779	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_386833954	2 SubmittersRCV000672451
NM_004646.4(NPHS1):c.559G>A (p.Val187Met)	SNV Germline	Chr19:35850413	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_199646884	3 SubmittersRCV000681696 RCV001729682
NM_004646.4(NPHS1):c.2902G>T (p.Gly968Cys)	SNV Germline	Chr19:35839521	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided		rs_772979927	1 SubmittersRCV000735650
NM_004646.4(NPHS1):c.2869G>A (p.Val957Met)	SNV Germline	Chr19:35839554	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided		rs_114849139	1 SubmittersRCV000735737
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter)	SNV Germline	Chr19:35849304	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1568456335	2 SubmittersRCV000778543 RCV001856161
NM_004646.4(NPHS1):c.2479C>T (p.Arg827Ter)	SNV Germline	Chr19:35842406	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_140018064	4 SubmittersRCV000780551 RCV002535676
NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser)	SNV Germline	Chr19:35826642	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis Congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_35240811	5 SubmittersRCV000894151 RCV001273380 RCV002294408 RCV001124535
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys)	SNV Germline	Chr19:35835741	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis Inborn genetic diseases NPHS1-related disorder	Criteria Provided Conflicting Classifications		rs_370387270	6 SubmittersRCV000889382 RCV001127644 RCV001277279 RCV002294402 RCV002539384 RCV003910543
NM_004646.4(NPHS1):c.1908C>T (p.Ser636=)	SNV Germline	Chr19:35845390	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome Congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications		rs_34761059	5 SubmittersRCV000894152 RCV001275394 RCV001125639 RCV002294409
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)	SNV Germline	Chr19:35846015	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome NPHS1-related disorder	Criteria Provided Conflicting Classifications		rs_375861433	4 SubmittersRCV000894576 RCV001277292 RCV003950441
NM_004646.4(NPHS1):c.1758-8T>G	SNV Germline	Chr19:35845548	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome not specified Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications		rs_187501631	6 SubmittersRCV000889131 RCV001127720 RCV001277288 RCV002271594 RCV002294400
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser)	SNV Germline	Chr19:35848385	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_372069596	4 SubmittersRCV000895445 RCV001124714 RCV001836003
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr)	SNV Germline	Chr19:35848656	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome NPHS1-related disorder	Criteria Provided Conflicting Classifications		rs_114112112	4 SubmittersRCV000905148 RCV001272290 RCV003923054
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln)	SNV Germline	Chr19:35849273	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome not specified Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications		rs_115308424	7 SubmittersRCV000898050 RCV001125719 RCV001272296 RCV001796311 RCV002294410
NM_004646.4(NPHS1):c.14C>T (p.Thr5Met)	SNV Germline	Chr19:35851824	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_191850409	4 SubmittersRCV000907367 RCV001124816 RCV001391132
NM_004646.4(NPHS1):c.126G>T (p.Thr42=)	SNV Germline	Chr19:35851605	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_145683325	4 SubmittersRCV000912796 RCV001122046 RCV001272307
NM_004646.4(NPHS1):c.3027C>T (p.Tyr1009=)	SNV Germline	Chr19:35839319	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_762184939	3 SubmittersRCV000942256 RCV001127645 RCV001826998
NM_004646.4(NPHS1):c.888G>A (p.Ala296=)	SNV Germline	Chr19:35849100	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_531224038	3 SubmittersRCV000927808 RCV001124716 RCV001272294
NM_004646.4(NPHS1):c.492C>T (p.Asp164=)	SNV Germline	Chr19:35850995	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome NPHS1-related disorder	Criteria Provided Conflicting Classifications		rs_147569168	4 SubmittersRCV000944864 RCV001127821 RCV001272302 RCV003895737
NM_004646.4(NPHS1):c.3110-5C>T	SNV Germline	Chr19:35835766	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications		rs_190769116	3 SubmittersRCV000938233 RCV001277280 RCV002294417
NM_004646.4(NPHS1):c.1899C>T (p.Thr633=)	SNV Germline	Chr19:35845399	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_748680209	3 SubmittersRCV000982267 RCV001125640 RCV001832288
NM_004646.4(NPHS1):c.609-10C>T	SNV Germline	Chr19:35849663	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_763508503	3 SubmittersRCV000979971 RCV001272300
NM_004646.4(NPHS1):c.3286+1G>A	SNV Unknown	Chr19:35831642	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1599835856	2 SubmittersRCV000990195
NM_004646.4(NPHS1):c.2663+2T>A	SNV Germline	Chr19:35842122	Pathogenic/Likely pathogenic	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_762392183	3 SubmittersRCV001003823 RCV001860541 RCV003467564
NM_004646.4(NPHS1):c.740G>A (p.Trp247Ter)	SNV Germline	Chr19:35849336	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1599845689	2 SubmittersRCV001004611 RCV003558637
NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys)	SNV Germline	Chr19:35831346	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_760440966	3 SubmittersRCV001125548 RCV002482244 RCV002556721
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His)	SNV Germline	Chr19:35831654	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_144203682	3 SubmittersRCV001125549 RCV002482245 RCV002556722
NM_004646.4(NPHS1):c.3481+1G>T	SNV Germline	Chr19:35831052	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_142883811	7 SubmittersRCV001192699 RCV001383054
NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln)	SNV Germline	Chr19:35842480	Conflicting classifications of pathogenicity	Nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_114203578	3 SubmittersRCV001195709 RCV002560207 RCV003132258
NM_004646.4(NPHS1):c.2870T>A (p.Val957Glu)	SNV Unknown	Chr19:35839553	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_763902818	1 SubmittersRCV001197140
NM_004646.4(NPHS1):c.1316-1G>C	SNV Germline	Chr19:35848166	Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_1973171785	2 SubmittersRCV001232127 RCV001828852
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)	SNV Germline	Chr19:35844184	Pathogenic/Likely pathogenic	Nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_764181464	4 SubmittersRCV001328319 RCV002542859 RCV003132369
NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter)	SNV Germline	Chr19:35851482	Pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided		rs_772222126	1 SubmittersRCV001280832
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro)	SNV Germline	Chr19:35849552	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_373835033	5 SubmittersRCV001342672 RCV001831088
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln)	SNV Germline	Chr19:35849285	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_34982899	3 SubmittersRCV001354183 RCV002471093
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)	SNV Germline	Chr19:35841802	Conflicting classifications of pathogenicity	Condition: not provided Nephrotic syndrome Finnish congenital nephrotic syndrome not specified	Criteria Provided Conflicting Classifications		rs_143649022	5 SubmittersRCV001376867 RCV001849512 RCV002476714 RCV002509676
NM_004646.4(NPHS1):c.2506+1G>A	SNV Germline	Chr19:35842378	Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1973073001	2 SubmittersRCV001376877 RCV003469621
NM_004646.4(NPHS1):c.713-2A>T	SNV Germline	Chr19:35849365	Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2146828046	2 SubmittersRCV001377277 RCV003473899
NM_004646.4(NPHS1):c.527-1G>A	SNV Germline	Chr19:35850446	Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_771143648	2 SubmittersRCV001377151 RCV003405625
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter)	SNV Germline	Chr19:35848690	Pathogenic/Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_753535989	3 SubmittersRCV001386347 RCV002499804
NM_004646.4(NPHS1):c.2512C>A (p.Pro838Thr)	SNV Germline	Chr19:35842275	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_2146819513	1 SubmittersRCV001391131
NM_004646.4(NPHS1):c.2072-5C>T	SNV Germline	Chr19:35844248	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_1973103431	3 SubmittersRCV001482020 RCV002501663
NM_004646.4(NPHS1):c.2927+2T>A	SNV Unknown	Chr19:35839494	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_1973023048	1 SubmittersRCV001535862
NM_004646.4(NPHS1):c.2761A>G (p.Thr921Ala)	SNV Germline	Chr19:35841769	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_370844834	3 SubmittersRCV001578736 RCV002072279 RCV003161130
NM_004646.4(NPHS1):c.2637G>T (p.Gly879=)	SNV Germline	Chr19:35842150	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1431580668	2 SubmittersRCV001578735 RCV001866084
NM_004646.4(NPHS1):c.2071+1G>T	SNV Germline	Chr19:35844318	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Single Submitter		rs_2146822164	1 SubmittersRCV001733619 RCV002508810
NM_004646.4(NPHS1):c.1434G>A (p.Trp478Ter)	SNV Germline	Chr19:35848047	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_1242448684	1 SubmittersRCV001782538
NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys)	SNV Germline	Chr19:35839416	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2146816353	2 SubmittersRCV001795593
NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser)	SNV Germline	Chr19:35849282	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_748287435	2 SubmittersRCV001823539 RCV001869816
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)	SNV Germline	Chr19:35842187	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Focal segmental glomerulosclerosis	Criteria Provided Multiple Submitters No Conflicts		rs_753656470	5 SubmittersRCV001823659 RCV001869820 RCV002294487
NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu)	SNV Germline	Chr19:35849348	Likely pathogenic	Nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_919999972	2 SubmittersRCV001849647 RCV002250775
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser)	SNV Germline	Chr19:35846149	Conflicting classifications of pathogenicity	Condition: not provided Microscopic hematuria Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_373264146	3 SubmittersRCV001933203 RCV002284224 RCV002484498
NM_004646.4(NPHS1):c.1289A>G (p.Lys430Arg)	SNV Germline	Chr19:35848279	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_368523939	2 SubmittersRCV001979974 RCV003130631
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter)	SNV Germline	Chr19:35851626	Pathogenic/Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1450477596	2 SubmittersRCV001891874 RCV003464200
NM_004646.4(NPHS1):c.3287-2A>C	SNV Germline	Chr19:35831502	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_758432802	4 SubmittersRCV002009317 RCV002486667
NM_004646.4(NPHS1):c.526+1G>C	SNV Germline	Chr19:35850960	Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_371515262	2 SubmittersRCV002025509 RCV003471227
NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln)	SNV Germline	Chr19:35848114	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002283822 RCV003101630
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)	SNV Germline	Chr19:35851274	Conflicting classifications of pathogenicity	not specified Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002302519 RCV003471320
NM_004646.4(NPHS1):c.2587T>C (p.Cys863Arg)	SNV Germline	Chr19:35842200	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002302520
NM_004646.4(NPHS1):c.3357G>A (p.Trp1119Ter)	SNV Unknown	Chr19:35831326	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002306703
NM_004646.4(NPHS1):c.641T>A (p.Leu214Ter)	SNV Unknown	Chr19:35849621	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002308286
NM_004646.4(NPHS1):c.333C>A (p.Cys111Ter)	SNV Unknown	Chr19:35851326	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002309441
NM_004646.4(NPHS1):c.295G>T (p.Glu99Ter)	SNV Germline	Chr19:35851364	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002306992 RCV003099160
NM_004646.4(NPHS1):c.71T>A (p.Leu24Ter)	SNV Unknown	Chr19:35851660	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002307169
NM_004646.4(NPHS1):c.187C>T (p.Gln63Ter)	SNV Unknown	Chr19:35851544	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002310466
NM_004646.4(NPHS1):c.3312-1G>C	SNV Germline	Chr19:35831372	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003465942 RCV003065234
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)	SNV Germline	Chr19:35846104	Pathogenic/Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002601230 RCV003464570
NM_004646.4(NPHS1):c.3554C>T (p.Pro1185Leu)	SNV Germline	Chr19:35830884	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002995211 RCV004546754
NM_004646.4(NPHS1):c.847C>T (p.Gln283Ter)	SNV Germline	Chr19:35849141	Pathogenic/Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003032504 RCV003389266
NM_004646.4(NPHS1):c.1012+2T>A	SNV Germline	Chr19:35848974	Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003032281 RCV003465903
NM_004646.4(NPHS1):c.1315+1G>A	SNV Germline	Chr19:35848252	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003123446
NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter)	SNV Germline	Chr19:35844451	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003155825
NM_004646.4(NPHS1):c.1001T>C (p.Leu334Pro)	SNV Germline	Chr19:35848987	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003233060
NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)	SNV Germline	Chr19:35844183	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003331616
NM_004646.4(NPHS1):c.2021C>T (p.Pro674Leu)	SNV Unknown	Chr19:35844369	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003412538
NM_004646.4(NPHS1):c.2899G>A (p.Gly967Arg)	SNV Unknown	Chr19:35839524	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003412540
NM_004646.4(NPHS1):c.3482-2A>C	SNV Unknown	Chr19:35830958	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471550
NM_004646.4(NPHS1):c.840+1G>T	SNV Unknown	Chr19:35849235	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003463188
NM_004646.4(NPHS1):c.1930+1G>A	SNV Unknown	Chr19:35845367	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471551
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)	SNV Germline	Chr19:35849646	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003471552 RCV003575105
NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter)	SNV Unknown	Chr19:35831331	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471559
NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)	SNV Unknown	Chr19:35839336	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471560
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)	SNV Unknown	Chr19:35831696	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003463193
NM_004646.4(NPHS1):c.527-2A>G	SNV Unknown	Chr19:35850447	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471561
NM_004646.4(NPHS1):c.1838C>A (p.Ser613Ter)	SNV Unknown	Chr19:35845460	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471563
NM_004646.4(NPHS1):c.2800C>T (p.Gln934Ter)	SNV Unknown	Chr19:35841730	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471569
NM_004646.4(NPHS1):c.1013-1G>T	SNV Unknown	Chr19:35848795	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471570
NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)	SNV Unknown	Chr19:35839541	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471571
NM_004646.4(NPHS1):c.398-1G>C	SNV Unknown	Chr19:35851090	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003463197
NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)	SNV Unknown	Chr19:35839583	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003463198
NM_004646.4(NPHS1):c.2816-3T>G	SNV Unknown	Chr19:35839610	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471574
NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)	SNV Unknown	Chr19:35844108	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471577
NM_004646.4(NPHS1):c.3118C>T (p.Gln1040Ter)	SNV Unknown	Chr19:35835753	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471579
NM_004646.4(NPHS1):c.397+1G>C	SNV Germline	Chr19:35851261	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003471581 RCV003689095
NM_004646.4(NPHS1):c.59-1G>T	SNV Unknown	Chr19:35851673	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003471582
NM_004646.4(NPHS1):c.841-2A>C	SNV Unknown	Chr19:35849149	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003476578
NM_004646.4(NPHS1):c.1930+5G>A	SNV Unknown	Chr19:35845363	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003476580
NM_004646.4(NPHS1):c.3312-2A>T	SNV Unknown	Chr19:35831373	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004574372
NM_004646.4(NPHS1):c.2521G>T (p.Glu841Ter)	SNV Unknown	Chr19:35842266	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004574373
NM_004646.4(NPHS1):c.2386G>C (p.Gly796Arg)	SNV Unknown	Chr19:35842499	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004574374
NM_004646.4(NPHS1):c.2515C>T (p.Gln839Ter)	SNV Unknown	Chr19:35842272	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004574375
NM_004646.4(NPHS1):c.2760T>A (p.Cys920Ter)	SNV Unknown	Chr19:35841770	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004574379
NM_004646.4(NPHS1):c.2334+2T>C	SNV Unknown	Chr19:35843470	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004574382
NM_004646.4(NPHS1):c.2737C>T (p.Gln913Ter)	SNV Unknown	Chr19:35841793	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004574383
NM_004646.4(NPHS1):c.3387+1G>A	SNV Unknown	Chr19:35831295	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004574386
NM_004646.4(NPHS1):c.1627+1G>A	SNV Unknown	Chr19:35846007	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004574388

NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)

SNV
Germline

Chr16:5078789

Pathogenic/Likely pathogenic

ALG1-congenital disorder of glycosylation
Condition: not provided
Inborn genetic diseases
Congenital disorder of glycosylation
Finnish congenital nephrotic syndrome
Encephalopathy
ALG12-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA223556

rs_28939378

20 SubmittersRCV000004989 RCV000081987 RCV000210565 RCV000606536 RCV000655875 RCV001526585 RCV003483423

NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)

SNV
Germline

Chr1:179575806

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 2
Condition: not provided
Focal segmental glomerulosclerosis
not specified
NPHS2-related disorder
Finnish congenital nephrotic syndrome
Steroid-resistant nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA117451

rs_74315344

16 SubmittersRCV000005696 RCV000588524 RCV002293977 RCV003150926 RCV003914811 RCV003407281 RCV001276841

NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr19:35831358

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250034

rs_137853042

12 SubmittersRCV000007270 RCV001390942

NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)

SNV
Germline

Chr19:35848142

Conflicting classifications of pathogenicity

Proteinuria
not specified
Finnish congenital nephrotic syndrome
Congenital nephrotic syndrome
Condition: not provided
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA200833

rs_28939695

9 SubmittersRCV000157397 RCV000174106 RCV000490526 RCV001123648 RCV000879499 RCV002294056

NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)

SNV
Germline

Chr19:35831056

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250037

rs_267606919

20 SubmittersRCV000007276 RCV000808977 RCV001328091

NM_004646.4(NPHS1):c.793T>C (p.Cys265Arg)

SNV
Germline

Chr19:35849283

Pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250040

rs_267606917

1 SubmittersRCV000007277

NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)

SNV
Germline

Chr19:35842421

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250042

rs_267606918

6 SubmittersRCV000007278 RCV001851717

NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)

SNV
Germline

Chr5:147828115

Conflicting classifications of pathogenicity; association; risk factor

Pancreatitis, chronic, susceptibility to
Hereditary pancreatitis
Condition: not provided
Finnish congenital nephrotic syndrome
Tropical pancreatitis
Pancreatitis

Criteria Provided
Conflicting Classifications

CA123440

rs_17107315

27 SubmittersRCV000014768 RCV000119030 RCV000656981 RCV001258230 RCV002283443 RCV002468556

NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)

SNV
Germline

Chr2:165941111

Pathogenic/Likely pathogenic

Nephronophthisis 12
Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy
Infantile nephronophthisis
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Retinal dystrophy
Finnish congenital nephrotic syndrome
Renal dysplasia and retinal aplasia
Nephrotic syndrome
See cases
TTC21B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA259949

rs_140511594

22 SubmittersRCV000023924 RCV000681870 RCV000685092 RCV000857219 RCV000763456 RCV001074967 RCV000786982 RCV001003236 RCV001328175 RCV002251925 RCV004528134

NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)

SNV
Germline

Chr19:35848788

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA250079

rs_386833861

4 SubmittersRCV000049830 RCV003421960

NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu)

SNV
Germline

Chr19:35848767

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250081

rs_386833862

3 SubmittersRCV000049831 RCV003441734

NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)

SNV
Germline

Chr19:35848759

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250083

rs_386833863

10 SubmittersRCV000049832 RCV001063172 RCV001849301

NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)

SNV
Germline

Chr19:35848711

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250085

rs_386833864

7 SubmittersRCV000049833 RCV001065065

NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)

SNV
Germline

Chr19:35848708

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Focal segmental glomerulosclerosis
NPHS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA250087

rs_386833865

12 SubmittersRCV000049834 RCV001380444 RCV002294007 RCV003415816

NM_004646.4(NPHS1):c.1102C>T (p.Pro368Ser)

SNV
Germline

Chr19:35848705

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250092

rs_386833866

3 SubmittersRCV000049836 RCV003556131

NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)

SNV
Germline

Chr19:35848704

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250094

rs_386833867

5 SubmittersRCV000049837 RCV001853052

NM_004646.4(NPHS1):c.1126C>G (p.Leu376Val)

SNV
Not provided

Chr19:35848681

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250096

rs_386833868

1 SubmittersRCV000049838

NM_004646.4(NPHS1):c.1134G>A (p.Trp378Ter)

SNV
Not provided

Chr19:35848673

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250098

rs_386833869

1 SubmittersRCV000049839

NM_004646.4(NPHS1):c.1135C>T (p.Arg379Trp)

SNV
Germline

Chr19:35848672

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA250101

rs_386833871

2 SubmittersRCV000049840 RCV001380443

NM_004646.4(NPHS1):c.1138C>T (p.Gln380Ter)

SNV
Not provided

Chr19:35848669

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250104

rs_386833872

1 SubmittersRCV000049842

NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)

SNV
Germline

Chr19:35848349

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250107

rs_386833874

9 SubmittersRCV000049843 RCV001040489

NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)

SNV
Unknown

Chr19:35848334

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250109

rs_142008044

3 SubmittersRCV000049845

NM_004646.4(NPHS1):c.1250G>T (p.Cys417Phe)

SNV
Not provided

Chr19:35848318

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250111

rs_386833875

1 SubmittersRCV000049846

NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)

SNV
Germline

Chr19:35848144

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250116

rs_386833879

5 SubmittersRCV000049850 RCV002513690

NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)

SNV
Germline

Chr19:35848102

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Nephrotic syndrome
Kidney disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA250119

rs_386833880

14 SubmittersRCV000049851 RCV001388275 RCV001849302 RCV002294008

NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr)

SNV
Unknown

Chr19:35848087

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA250121

rs_386833881

2 SubmittersRCV000049852

NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)

SNV
Germline

Chr19:35846080

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250125

rs_386833884

6 SubmittersRCV000049855 RCV002513691

NM_004646.4(NPHS1):c.1583G>T (p.Cys528Phe)

SNV
Not provided

Chr19:35846052

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250127

rs_386833885

1 SubmittersRCV000049856

NM_004646.4(NPHS1):c.1672C>T (p.Arg558Cys)

SNV
Not provided

Chr19:35845754

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250129

rs_386833886

1 SubmittersRCV000049857

NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)

SNV
Germline

Chr19:35845725

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Infantile Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250131

rs_386833887

9 SubmittersRCV000049858 RCV000992445 RCV003407431

NM_004646.4(NPHS1):c.1707C>G (p.Ser569Arg)

SNV
Not provided

Chr19:35845719

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250134

rs_386833888

1 SubmittersRCV000049859

NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)

SNV
Germline

Chr19:35845711

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250136

rs_386833889

5 SubmittersRCV000049860 RCV000487117

NM_004646.4(NPHS1):c.1724C>A (p.Pro575Gln)

SNV
Not provided

Chr19:35845702

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250138

rs_386833890

1 SubmittersRCV000049861

NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)

SNV
Germline

Chr19:35845538

Pathogenic

Finnish congenital nephrotic syndrome
Nephrotic syndrome

Criteria Provided
Single Submitter

CA250141

rs_386833892

3 SubmittersRCV000049863 RCV001849304

NM_004646.4(NPHS1):c.1801G>C (p.Gly601Arg)

SNV
Not provided

Chr19:35845497

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250143

rs_386833893

1 SubmittersRCV000049864

NM_004646.4(NPHS1):c.1829T>A (p.Leu610Gln)

SNV
Not provided

Chr19:35845469

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250146

rs_386833894

1 SubmittersRCV000049865

NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)

SNV
Germline

Chr19:35845430

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250148

rs_386833895

13 SubmittersRCV000049866 RCV000811777 RCV001849305

NM_004646.4(NPHS1):c.1905C>T (p.Ser635=)

SNV
Not provided

Chr19:35845393

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250150

rs_386833896

1 SubmittersRCV000049867

NM_004646.4(NPHS1):c.191G>C (p.Trp64Ser)

SNV
Not provided

Chr19:35851540

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250153

rs_386833897

1 SubmittersRCV000049868

NM_004646.4(NPHS1):c.1928T>C (p.Leu643Pro)

SNV
Unknown

Chr19:35845370

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Congenital nephrotic syndrome

No Assertion Criteria Provided

CA250155

rs_386833898

2 SubmittersRCV000049869 RCV001003824

NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)

SNV
Germline

Chr19:35844436

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250158

rs_386833899

4 SubmittersRCV000049870 RCV002514254

NM_004646.4(NPHS1):c.2019C>A (p.Asn673Lys)

SNV
Not provided

Chr19:35844371

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250161

rs_191807913

1 SubmittersRCV000049871

NM_004646.4(NPHS1):c.2043G>T (p.Trp681Cys)

SNV
Not provided

Chr19:35844347

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250163

rs_386833900

1 SubmittersRCV000049872

NM_004646.4(NPHS1):c.2071+2T>C

SNV
Germline

Chr19:35844317

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Infantile Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250165

rs_386833901

5 SubmittersRCV000049873 RCV001376868 RCV003407432

NM_004646.4(NPHS1):c.2072-6C>G

SNV
Germline

Chr19:35844249

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250166

rs_200253809

4 SubmittersRCV000049874 RCV001379644

NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly)

SNV
Germline

Chr19:35844189

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250167

rs_386833902

3 SubmittersRCV000049875

NM_004646.4(NPHS1):c.2171C>G (p.Ser724Cys)

SNV
Not provided

Chr19:35844144

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250171

rs_386833905

1 SubmittersRCV000049878

NM_004646.4(NPHS1):c.2216C>T (p.Ala739Val)

SNV
Not provided

Chr19:35843590

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250174

rs_386833907

1 SubmittersRCV000049880

NM_004646.4(NPHS1):c.2225T>C (p.Ile742Thr)

SNV
Not provided

Chr19:35843581

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250176

rs_386833908

1 SubmittersRCV000049881

NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)

SNV
Germline

Chr19:35843579

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250178

rs_386833909

10 SubmittersRCV000049882 RCV000797708 RCV001328086

NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)

SNV
Germline

Chr19:35842481

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250181

rs_386833911

7 SubmittersRCV000049884 RCV000793793 RCV001328089

NM_004646.4(NPHS1):c.2405G>C (p.Arg802Pro)

SNV
Not provided

Chr19:35842480

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250183

rs_114203578

1 SubmittersRCV000049885

NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)

SNV
Germline

Chr19:35842468

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250185

rs_386833912

9 SubmittersRCV000049886 RCV000712426

NM_004646.4(NPHS1):c.2442C>G (p.Tyr814Ter)

SNV
Not provided

Chr19:35842443

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250187

rs_386833913

1 SubmittersRCV000049887

NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)

SNV
Germline

Chr19:35842394

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
NPHS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA250191

rs_386833915

6 SubmittersRCV000049889 RCV001853054 RCV003415818

NM_004646.4(NPHS1):c.2495T>C (p.Leu832Pro)

SNV
Not provided

Chr19:35842390

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250193

rs_386833916

1 SubmittersRCV000049890

NM_004646.4(NPHS1):c.2500G>T (p.Val834Phe)

SNV
Not provided

Chr19:35842385

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250195

rs_386833917

1 SubmittersRCV000049891

NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)

SNV
Germline

Chr19:35842191

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Nephrotic syndrome
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA250199

rs_386833920

8 SubmittersRCV000049894 RCV001328088 RCV001388273 RCV002251954

NM_004646.4(NPHS1):c.2625G>A (p.Trp875Ter)

SNV
Not provided

Chr19:35842162

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250204

rs_386833923

1 SubmittersRCV000049897

NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)

SNV
Germline

Chr19:35841747

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250209

rs_386833926

4 SubmittersRCV000049900 RCV002513692

NM_004646.4(NPHS1):c.2815+5G>A

SNV
Not provided

Chr19:35841710

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250212

rs_386833927

1 SubmittersRCV000049901

NM_004646.4(NPHS1):c.286C>G (p.Leu96Val)

SNV
Germline

Chr19:35851373

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA250214

rs_386833929

2 SubmittersRCV000049903 RCV001853056

NM_004646.4(NPHS1):c.2927+1G>A

SNV
Germline

Chr19:35839495

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA250216

rs_386833930

2 SubmittersRCV000049904 RCV001853057

NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)

SNV
Germline

Chr19:35851346

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Kidney disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250218

rs_386833932

6 SubmittersRCV000049906 RCV002294009 RCV002513693

NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)

SNV
Germline

Chr19:35851340

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA250221

rs_386833933

8 SubmittersRCV000049907 RCV001169934 RCV003330420

NM_004646.4(NPHS1):c.3388-2A>G

SNV
Not provided

Chr19:35831148

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250228

rs_386833938

1 SubmittersRCV000049912

NM_004646.4(NPHS1):c.3482G>T (p.Gly1161Val)

SNV
Not provided

Chr19:35830956

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250231

rs_386833939

1 SubmittersRCV000049914

NM_004646.4(NPHS1):c.3595-2A>G

SNV
Unknown

Chr19:35826647

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA250234

rs_386833940

2 SubmittersRCV000049915

NM_004646.4(NPHS1):c.398-1G>A

SNV
Unknown

Chr19:35851090

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250236

rs_386833942

3 SubmittersRCV000049917

NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)

SNV
Germline

Chr19:35851019

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250237

rs_386833943

4 SubmittersRCV000049918 RCV001390971

NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser)

SNV
Unknown

Chr19:35851008

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA250240

rs_386833944

2 SubmittersRCV000049919

NM_004646.4(NPHS1):c.500C>T (p.Pro167Leu)

SNV
Unknown

Chr19:35850987

Likely pathogenic

Finnish congenital nephrotic syndrome
Steroid-resistant nephrotic syndrome
Congenital nephrotic syndrome
Nephrotic range proteinuria

No Assertion Criteria Provided

CA250243

rs_386833945

2 SubmittersRCV000049920 RCV001003825

NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn)

SNV
Not provided

Chr19:35850975

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250245

rs_386833946

1 SubmittersRCV000049921

NM_004646.4(NPHS1):c.518T>A (p.Ile173Asn)

SNV
Not provided

Chr19:35850969

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250251

rs_386833949

1 SubmittersRCV000049924

NM_004646.4(NPHS1):c.526+5G>C

SNV
Not provided

Chr19:35850956

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250253

rs_386833950

1 SubmittersRCV000049925

NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr19:35850440

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250254

rs_386833951

5 SubmittersRCV000049926 RCV001853059

NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr19:35850398

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250258

rs_386833953

4 SubmittersRCV000049928 RCV000812623

NM_004646.4(NPHS1):c.58+1G>T

SNV
Not provided

Chr19:35851779

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250261

rs_386833954

1 SubmittersRCV000049929

NM_004646.4(NPHS1):c.609-2A>C

SNV
Germline

Chr19:35849655

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250262

rs_386833955

3 SubmittersRCV000049930 RCV001034959

NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter)

SNV
Germline

Chr19:35849570

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250267

rs_386833958

3 SubmittersRCV000049933 RCV001853060

NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)

SNV
Germline

Chr19:35849340

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250270

rs_386833959

3 SubmittersRCV000049934 RCV003556134

NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)

SNV
Germline

Chr19:35849310

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA250273

rs_386833960

5 SubmittersRCV000049935 RCV000996847 RCV002281898

NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)

SNV
Germline

Chr19:35849268

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250275

rs_386833961

4 SubmittersRCV000049936 RCV003320551

NM_004646.4(NPHS1):c.886G>A (p.Ala296Thr)

SNV
Not provided

Chr19:35849102

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250277

rs_386833962

1 SubmittersRCV000049937

NM_000313.4(PROS1):c.698G>A (p.Arg233Lys)

SNV
Germline

Chr3:93900833

Conflicting classifications of pathogenicity

Thrombophilia due to protein S deficiency, autosomal dominant
Thrombophilia due to protein S deficiency, autosomal recessive
Protein S deficiency disease
Finnish congenital nephrotic syndrome
PROS1-related disorder

Criteria Provided
Conflicting Classifications

CA211741

rs_41267007

6 SubmittersRCV000148752 RCV000470283 RCV000851862 RCV001258303 RCV003935257

NM_004646.4(NPHS1):c.3388-1G>A

SNV
Germline

Chr19:35831147

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA346577

rs_730880176

1 SubmittersRCV000157403

NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu)

SNV
Germline

Chr19:35839550

Conflicting classifications of pathogenicity

Proteinuria
Condition: not provided
Inborn genetic diseases
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA346571

rs_730880175

4 SubmittersRCV000157401 RCV002515049 RCV002516361 RCV002498780

NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)

SNV
Germline

Chr19:35845496

Conflicting classifications of pathogenicity

Proteinuria
Finnish congenital nephrotic syndrome
Condition: not provided
Focal segmental glomerulosclerosis
Congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA346568

rs_114615449

7 SubmittersRCV000157400 RCV000354078 RCV000879498 RCV002294058 RCV001094540

NM_004646.4(NPHS1):c.1756A>G (p.Arg586Gly)

SNV
Germline

Chr19:35845670

Pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA346566

rs_730880174

1 SubmittersRCV000157399

NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)

SNV
Germline

Chr19:35846025

Conflicting classifications of pathogenicity

Proteinuria
Finnish congenital nephrotic syndrome
Condition: not provided
Congenital nephrotic syndrome
Focal segmental glomerulosclerosis
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA346563

rs_368913905

8 SubmittersRCV000157398 RCV000671934 RCV000910963 RCV001127722 RCV002294057 RCV003917541

NM_014625.4(NPHS2):c.503G>A (p.Arg168His)

SNV
Germline

Chr1:179559710

Pathogenic/Likely pathogenic

Nephrotic syndrome, type 2
Condition: not provided
Nephrotic syndrome
Steroid-resistant nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA199046

rs_530318579

13 SubmittersRCV000169033 RCV000517983 RCV001328093 RCV001273618 RCV003407626

NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)

SNV
Germline

Chr19:35831092

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250315

rs_150855173

6 SubmittersRCV000169477 RCV001220457

NM_004646.4(NPHS1):c.3312-1G>A

SNV
Unknown

Chr19:35831372

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA250318

rs_786204729

1 SubmittersRCV000169569

NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)

SNV
Germline

Chr19:35839418

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis
Condition: not provided
Nephrotic syndrome
NPHS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA250310

rs_138656762

11 SubmittersRCV000169078 RCV001195706 RCV001222912 RCV001328320 RCV003390881

NM_004646.4(NPHS1):c.2335-1G>A

SNV
Germline

Chr19:35842551

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250309

rs_150038620

16 SubmittersRCV000169038 RCV000599036

NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)

SNV
Germline

Chr19:35850407

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250312

rs_139598219

7 SubmittersRCV000169154 RCV000712433

NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro)

SNV
Germline

Chr19:35831298

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA236021

rs_786205518

2 SubmittersRCV000171282 RCV001808442

NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)

SNV
Germline

Chr19:35842487

Conflicting classifications of pathogenicity

Familial idiopathic steroid-resistant nephrotic syndrome
Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA067719

rs_114896482

6 SubmittersRCV000208010 RCV000675181 RCV000955035

NM_004646.4(NPHS1):c.528T>C (p.Ser176=)

SNV
Germline

Chr19:35850444

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA352418

rs_539716201

3 SubmittersRCV000208400 RCV000923782 RCV001272301

NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)

SNV
Germline

Chr19:35839554

Conflicting classifications of pathogenicity

not specified
Finnish congenital nephrotic syndrome
Condition: not provided
Congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9389997

rs_114849139

9 SubmittersRCV000245697 RCV000490421 RCV000906876 RCV001127647

NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)

SNV
Germline

Chr19:35851666

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9390924

rs_116617171

5 SubmittersRCV000490334 RCV000903298 RCV002271466

NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)

SNV
Germline

Chr19:35841784

Conflicting classifications of pathogenicity

not specified
Finnish congenital nephrotic syndrome
Condition: not provided
Congenital nephrotic syndrome
Kidney disorder
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9390034

rs_138173172

8 SubmittersRCV000242719 RCV000665537 RCV000883305 RCV001127648 RCV002294142 RCV003891928

NM_004646.4(NPHS1):c.1930+10C>T

SNV
Germline

Chr19:35845358

Conflicting classifications of pathogenicity

not specified
Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

CA9390290

rs_76131336

8 SubmittersRCV000253090 RCV000302690 RCV000712422 RCV001275393 RCV002294140

NM_004646.4(NPHS1):c.1170+8G>A

SNV
Germline

Chr19:35848629

Conflicting classifications of pathogenicity

not specified
Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390537

rs_140808195

8 SubmittersRCV000243599 RCV000332751 RCV000712418 RCV001272289 RCV002294136

NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)

SNV
Germline

Chr19:35849565

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390698

rs_35238405

8 SubmittersRCV000248913 RCV000905150 RCV001272298 RCV002294149

NM_004646.4(NPHS1):c.597G>A (p.Glu199=)

SNV
Germline

Chr19:35850375

Conflicting classifications of pathogenicity

not specified
Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390753

rs_61731102

4 SubmittersRCV000245977 RCV000334981 RCV000898175 RCV001278569

NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)

SNV
Germline

Chr19:35851603

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390907

rs_140626538

7 SubmittersRCV000243577 RCV000588978 RCV001122045 RCV001272306 RCV002294139

NM_004646.4(NPHS1):c.59-5C>G

SNV
Germline

Chr19:35851677

Conflicting classifications of pathogenicity

not specified
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
Condition: not provided
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390925

rs_114595892

10 SubmittersRCV000253934 RCV001124813 RCV001262358 RCV000962680 RCV002294148

NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)

SNV
Germline

Chr19:35851795

Conflicting classifications of pathogenicity

not specified
Finnish congenital nephrotic syndrome
Condition: not provided
Congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390942

rs_73928330

7 SubmittersRCV000244392 RCV000669644 RCV000904912 RCV001124814

NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)

SNV
Germline

Chr19:35850409

Conflicting classifications of pathogenicity

not specified
Finnish congenital nephrotic syndrome
Condition: not provided
Congenital nephrotic syndrome
Focal segmental glomerulosclerosis
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9390759

rs_145125791

12 SubmittersRCV000353631 RCV000665656 RCV000958774 RCV001125723 RCV002294214 RCV003920050

NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)

SNV
Germline

Chr19:35849604

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9390706

rs_115333628

7 SubmittersRCV000361967 RCV001125721 RCV001272299 RCV003417918

NM_004646.4(NPHS1):c.1926A>G (p.Val642=)

SNV
Germline

Chr19:35845372

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390295

rs_114728208

5 SubmittersRCV000341078 RCV000889130 RCV001277287 RCV002294272

NM_004646.4(NPHS1):c.726C>T (p.Pro242=)

SNV
Germline

Chr19:35849350

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA10642637

rs_886054352

2 SubmittersRCV003708517 RCV000279896

NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)

SNV
Germline

Chr19:35851616

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome
Inborn genetic diseases
Focal segmental glomerulosclerosis
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9390910

rs_375670819

6 SubmittersRCV000370301 RCV000889383 RCV001828323 RCV002521211 RCV002294275 RCV003922400

NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)

SNV
Germline

Chr19:35845788

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390367

rs_115444936

7 SubmittersRCV000366917 RCV000588114 RCV001277291

NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys)

SNV
Germline

Chr19:35849093

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9390606

rs_753476209

3 SubmittersRCV000319702 RCV001859938 RCV003114489

NM_004646.4(NPHS1):c.1440+11C>T

SNV
Germline

Chr19:35848030

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390439

rs_750251097

2 SubmittersRCV003105871 RCV000326992

NM_004646.4(NPHS1):c.1110T>C (p.Val370=)

SNV
Germline

Chr19:35848697

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390547

rs_116459838

5 SubmittersRCV000387172 RCV000889132 RCV001272291 RCV002294273

NM_004646.4(NPHS1):c.151C>T (p.Leu51=)

SNV
Germline

Chr19:35851580

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
Condition: not provided
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390896

rs_114385015

5 SubmittersRCV000306765 RCV001272305 RCV000904238 RCV002294274

NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=)

SNV
Germline

Chr19:35839385

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9389963

rs_201263480

4 SubmittersRCV000387149 RCV000977399 RCV001277283 RCV003910262

NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter)

SNV
Germline

Chr19:35844195

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9390226

rs_751809997

2 SubmittersRCV000409298 RCV001861372

NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)

SNV
Germline

Chr19:35848147

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041980

rs_1057516776

4 SubmittersRCV000412259 RCV001861377

NM_004646.4(NPHS1):c.1013-1G>C

SNV
Unknown

Chr19:35848795

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA16041981

rs_1057517413

1 SubmittersRCV000410344

NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)

SNV
Germline

Chr19:35849122

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9390611

rs_781584590

5 SubmittersRCV000411580 RCV001850950

NM_004646.4(NPHS1):c.397+2T>C

SNV
Unknown

Chr19:35851260

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA16041983

rs_1054950770

1 SubmittersRCV000410346

NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met)

SNV
Germline

Chr19:35831079

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome
Congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9389754

rs_143145248

5 SubmittersRCV000428437 RCV001277277 RCV001124538

NM_004646.4(NPHS1):c.3481+4A>T

SNV
Germline

Chr19:35831049

Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16608204

rs_1057524695

2 SubmittersRCV000442634 RCV003409609

NM_004646.4(NPHS1):c.2206G>A (p.Val736Met)

SNV
Germline

Chr19:35844109

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405397157

rs_1131692245

2 SubmittersRCV000495969

NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)

SNV
Germline

Chr19:35846016

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Congenital nephrotic syndrome
Condition: not provided
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9390387

rs_149598144

5 SubmittersRCV001277293 RCV001127721 RCV002060249 RCV003942697

NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter)

SNV
Germline

Chr19:35849274

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9390652

rs_749341977

4 SubmittersRCV000587459 RCV003558448

NM_004646.4(NPHS1):c.2663+2T>G

SNV
Germline

Chr19:35842122

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA405390993

rs_762392183

6 SubmittersRCV000586590 RCV000712428

NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)

SNV
Germline

Chr19:35830889

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Kidney disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_767887213

6 SubmittersRCV000667636 RCV001066531 RCV002294364

NM_004646.4(NPHS1):c.3287-2A>G

SNV
Germline

Chr19:35831502

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_758432802

2 SubmittersRCV000668394 RCV001378745

NM_004646.4(NPHS1):c.3287-11G>A

SNV
Germline

Chr19:35831511

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1175331248

2 SubmittersRCV000669794 RCV003558502

NM_004646.4(NPHS1):c.1931-1G>A

SNV
Unknown

Chr19:35844460

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_1555762381

1 SubmittersRCV000664936

NM_004646.4(NPHS1):c.2815+3A>G

SNV
Unknown

Chr19:35841712

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_1223946044

2 SubmittersRCV000670036

NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)

SNV
Germline

Chr19:35848758

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_570069789

5 SubmittersRCV000665105 RCV001584530 RCV001855435

NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)

SNV
Germline

Chr19:35849060

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_763972372

4 SubmittersRCV000672110 RCV000821998

NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)

SNV
Germline

Chr19:35845712

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755254230

4 SubmittersRCV000664718 RCV001731855 RCV002532034

NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)

SNV
Germline

Chr19:35830876

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
not specified
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

rs_116700257

7 SubmittersRCV000669816 RCV000712431 RCV002282307 RCV003907931

NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala)

SNV
Germline

Chr19:35835720

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140673499

3 SubmittersRCV000672194 RCV002060826

NM_004646.4(NPHS1):c.1170+7C>T

SNV
Unknown

Chr19:35848630

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_906888001

3 SubmittersRCV000666876

NM_004646.4(NPHS1):c.398-2A>G

SNV
Germline

Chr19:35851091

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555763974

2 SubmittersRCV000665767 RCV001379711

NM_004646.4(NPHS1):c.3594+1G>A

SNV
Unknown

Chr19:35830843

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555758856

2 SubmittersRCV000668341

NM_004646.4(NPHS1):c.3286+5G>A

SNV
Unknown

Chr19:35831638

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_1555759089

2 SubmittersRCV000673085

NM_004646.4(NPHS1):c.3167-1G>A

SNV
Unknown

Chr19:35831763

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_1009762900

1 SubmittersRCV000674816

NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)

SNV
Germline

Chr19:35839319

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_762184939

4 SubmittersRCV000668878 RCV002531212

NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)

SNV
Germline

Chr19:35842124

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778951863

4 SubmittersRCV000670625 RCV003558508

NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)

SNV
Germline

Chr19:35845476

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
Congenital nephrotic syndrome
Focal segmental glomerulosclerosis
not specified

Criteria Provided
Conflicting Classifications

rs_367976914

6 SubmittersRCV000671805 RCV000938880 RCV001125642 RCV002294365 RCV001662739

NM_004646.4(NPHS1):c.1757+1G>A

SNV
Germline

Chr19:35845668

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555762591

2 SubmittersRCV000670078

NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)

SNV
Germline

Chr19:35845679

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147641617

5 SubmittersRCV000669765 RCV000992446

NM_004646.4(NPHS1):c.1316-2A>G

SNV
Unknown

Chr19:35848167

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_1555763090

1 SubmittersRCV000673975

NM_004646.4(NPHS1):c.58+1G>A

SNV
Unknown

Chr19:35851779

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_386833954

2 SubmittersRCV000672451

NM_004646.4(NPHS1):c.559G>A (p.Val187Met)

SNV
Germline

Chr19:35850413

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_199646884

3 SubmittersRCV000681696 RCV001729682

NM_004646.4(NPHS1):c.2902G>T (p.Gly968Cys)

SNV
Germline

Chr19:35839521

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

rs_772979927

1 SubmittersRCV000735650

NM_004646.4(NPHS1):c.2869G>A (p.Val957Met)

SNV
Germline

Chr19:35839554

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

rs_114849139

1 SubmittersRCV000735737

NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter)

SNV
Germline

Chr19:35849304

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1568456335

2 SubmittersRCV000778543 RCV001856161

NM_004646.4(NPHS1):c.2479C>T (p.Arg827Ter)

SNV
Germline

Chr19:35842406

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_140018064

4 SubmittersRCV000780551 RCV002535676

NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser)

SNV
Germline

Chr19:35826642

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis
Congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_35240811

5 SubmittersRCV000894151 RCV001273380 RCV002294408 RCV001124535

NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys)

SNV
Germline

Chr19:35835741

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis
Inborn genetic diseases
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

rs_370387270

6 SubmittersRCV000889382 RCV001127644 RCV001277279 RCV002294402 RCV002539384 RCV003910543

NM_004646.4(NPHS1):c.1908C>T (p.Ser636=)

SNV
Germline

Chr19:35845390

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome
Congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

rs_34761059

5 SubmittersRCV000894152 RCV001275394 RCV001125639 RCV002294409

NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)

SNV
Germline

Chr19:35846015

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

rs_375861433

4 SubmittersRCV000894576 RCV001277292 RCV003950441

NM_004646.4(NPHS1):c.1758-8T>G

SNV
Germline

Chr19:35845548

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
not specified
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

rs_187501631

6 SubmittersRCV000889131 RCV001127720 RCV001277288 RCV002271594 RCV002294400

NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser)

SNV
Germline

Chr19:35848385

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_372069596

4 SubmittersRCV000895445 RCV001124714 RCV001836003

NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr)

SNV
Germline

Chr19:35848656

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

rs_114112112

4 SubmittersRCV000905148 RCV001272290 RCV003923054

NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln)

SNV
Germline

Chr19:35849273

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
not specified
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

rs_115308424

7 SubmittersRCV000898050 RCV001125719 RCV001272296 RCV001796311 RCV002294410

NM_004646.4(NPHS1):c.14C>T (p.Thr5Met)

SNV
Germline

Chr19:35851824

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_191850409

4 SubmittersRCV000907367 RCV001124816 RCV001391132

NM_004646.4(NPHS1):c.126G>T (p.Thr42=)

SNV
Germline

Chr19:35851605

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_145683325

4 SubmittersRCV000912796 RCV001122046 RCV001272307

NM_004646.4(NPHS1):c.3027C>T (p.Tyr1009=)

SNV
Germline

Chr19:35839319

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_762184939

3 SubmittersRCV000942256 RCV001127645 RCV001826998

NM_004646.4(NPHS1):c.888G>A (p.Ala296=)

SNV
Germline

Chr19:35849100

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_531224038

3 SubmittersRCV000927808 RCV001124716 RCV001272294

NM_004646.4(NPHS1):c.492C>T (p.Asp164=)

SNV
Germline

Chr19:35850995

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

rs_147569168

4 SubmittersRCV000944864 RCV001127821 RCV001272302 RCV003895737

NM_004646.4(NPHS1):c.3110-5C>T

SNV
Germline

Chr19:35835766

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

rs_190769116

3 SubmittersRCV000938233 RCV001277280 RCV002294417

NM_004646.4(NPHS1):c.1899C>T (p.Thr633=)

SNV
Germline

Chr19:35845399

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_748680209

3 SubmittersRCV000982267 RCV001125640 RCV001832288

NM_004646.4(NPHS1):c.609-10C>T

SNV
Germline

Chr19:35849663

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_763508503

3 SubmittersRCV000979971 RCV001272300

NM_004646.4(NPHS1):c.3286+1G>A

SNV
Unknown

Chr19:35831642

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1599835856

2 SubmittersRCV000990195

NM_004646.4(NPHS1):c.2663+2T>A

SNV
Germline

Chr19:35842122

Pathogenic/Likely pathogenic

Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_762392183

3 SubmittersRCV001003823 RCV001860541 RCV003467564

NM_004646.4(NPHS1):c.740G>A (p.Trp247Ter)

SNV
Germline

Chr19:35849336

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1599845689

2 SubmittersRCV001004611 RCV003558637

NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys)

SNV
Germline

Chr19:35831346

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760440966

3 SubmittersRCV001125548 RCV002482244 RCV002556721

NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His)

SNV
Germline

Chr19:35831654

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144203682

3 SubmittersRCV001125549 RCV002482245 RCV002556722

NM_004646.4(NPHS1):c.3481+1G>T

SNV
Germline

Chr19:35831052

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_142883811

7 SubmittersRCV001192699 RCV001383054

NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln)

SNV
Germline

Chr19:35842480

Conflicting classifications of pathogenicity

Nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_114203578

3 SubmittersRCV001195709 RCV002560207 RCV003132258

NM_004646.4(NPHS1):c.2870T>A (p.Val957Glu)

SNV
Unknown

Chr19:35839553

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_763902818

1 SubmittersRCV001197140

NM_004646.4(NPHS1):c.1316-1G>C

SNV
Germline

Chr19:35848166

Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_1973171785

2 SubmittersRCV001232127 RCV001828852

NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)

SNV
Germline

Chr19:35844184

Pathogenic/Likely pathogenic

Nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_764181464

4 SubmittersRCV001328319 RCV002542859 RCV003132369

NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter)

SNV
Germline

Chr19:35851482

Pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

rs_772222126

1 SubmittersRCV001280832

NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro)

SNV
Germline

Chr19:35849552

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_373835033

5 SubmittersRCV001342672 RCV001831088

NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln)

SNV
Germline

Chr19:35849285

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_34982899

3 SubmittersRCV001354183 RCV002471093

NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)

SNV
Germline

Chr19:35841802

Conflicting classifications of pathogenicity

Condition: not provided
Nephrotic syndrome
Finnish congenital nephrotic syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_143649022

5 SubmittersRCV001376867 RCV001849512 RCV002476714 RCV002509676

NM_004646.4(NPHS1):c.2506+1G>A

SNV
Germline

Chr19:35842378

Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1973073001

2 SubmittersRCV001376877 RCV003469621

NM_004646.4(NPHS1):c.713-2A>T

SNV
Germline

Chr19:35849365

Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2146828046

2 SubmittersRCV001377277 RCV003473899

NM_004646.4(NPHS1):c.527-1G>A

SNV
Germline

Chr19:35850446

Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_771143648

2 SubmittersRCV001377151 RCV003405625

NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter)

SNV
Germline

Chr19:35848690

Pathogenic/Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_753535989

3 SubmittersRCV001386347 RCV002499804

NM_004646.4(NPHS1):c.2512C>A (p.Pro838Thr)

SNV
Germline

Chr19:35842275

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_2146819513

1 SubmittersRCV001391131

NM_004646.4(NPHS1):c.2072-5C>T

SNV
Germline

Chr19:35844248

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_1973103431

3 SubmittersRCV001482020 RCV002501663

NM_004646.4(NPHS1):c.2927+2T>A

SNV
Unknown

Chr19:35839494

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_1973023048

1 SubmittersRCV001535862

NM_004646.4(NPHS1):c.2761A>G (p.Thr921Ala)

SNV
Germline

Chr19:35841769

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370844834

3 SubmittersRCV001578736 RCV002072279 RCV003161130

NM_004646.4(NPHS1):c.2637G>T (p.Gly879=)

SNV
Germline

Chr19:35842150

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1431580668

2 SubmittersRCV001578735 RCV001866084

NM_004646.4(NPHS1):c.2071+1G>T

SNV
Germline

Chr19:35844318

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_2146822164

1 SubmittersRCV001733619 RCV002508810

NM_004646.4(NPHS1):c.1434G>A (p.Trp478Ter)

SNV
Germline

Chr19:35848047

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_1242448684

1 SubmittersRCV001782538

NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys)

SNV
Germline

Chr19:35839416

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2146816353

2 SubmittersRCV001795593

NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser)

SNV
Germline

Chr19:35849282

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748287435

2 SubmittersRCV001823539 RCV001869816

NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)

SNV
Germline

Chr19:35842187

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Focal segmental glomerulosclerosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_753656470

5 SubmittersRCV001823659 RCV001869820 RCV002294487

NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu)

SNV
Germline

Chr19:35849348

Likely pathogenic

Nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_919999972

2 SubmittersRCV001849647 RCV002250775

NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser)

SNV
Germline

Chr19:35846149

Conflicting classifications of pathogenicity

Condition: not provided
Microscopic hematuria
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_373264146

3 SubmittersRCV001933203 RCV002284224 RCV002484498

NM_004646.4(NPHS1):c.1289A>G (p.Lys430Arg)

SNV
Germline

Chr19:35848279

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_368523939

2 SubmittersRCV001979974 RCV003130631

NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter)

SNV
Germline

Chr19:35851626

Pathogenic/Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450477596

2 SubmittersRCV001891874 RCV003464200

NM_004646.4(NPHS1):c.3287-2A>C

SNV
Germline

Chr19:35831502

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_758432802

4 SubmittersRCV002009317 RCV002486667

NM_004646.4(NPHS1):c.526+1G>C

SNV
Germline

Chr19:35850960

Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_371515262

2 SubmittersRCV002025509 RCV003471227

NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln)

SNV
Germline

Chr19:35848114

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002283822 RCV003101630

NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)

SNV
Germline

Chr19:35851274

Conflicting classifications of pathogenicity

not specified
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002302519 RCV003471320

NM_004646.4(NPHS1):c.2587T>C (p.Cys863Arg)

SNV
Germline

Chr19:35842200

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002302520

NM_004646.4(NPHS1):c.3357G>A (p.Trp1119Ter)

SNV
Unknown

Chr19:35831326

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306703

NM_004646.4(NPHS1):c.641T>A (p.Leu214Ter)

SNV
Unknown

Chr19:35849621

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002308286

NM_004646.4(NPHS1):c.333C>A (p.Cys111Ter)

SNV
Unknown

Chr19:35851326

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309441

NM_004646.4(NPHS1):c.295G>T (p.Glu99Ter)

SNV
Germline

Chr19:35851364

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002306992 RCV003099160

NM_004646.4(NPHS1):c.71T>A (p.Leu24Ter)

SNV
Unknown

Chr19:35851660

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307169

NM_004646.4(NPHS1):c.187C>T (p.Gln63Ter)

SNV
Unknown

Chr19:35851544

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310466

NM_004646.4(NPHS1):c.3312-1G>C

SNV
Germline

Chr19:35831372

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465942 RCV003065234

NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)

SNV
Germline

Chr19:35846104

Pathogenic/Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002601230 RCV003464570

NM_004646.4(NPHS1):c.3554C>T (p.Pro1185Leu)

SNV
Germline

Chr19:35830884

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002995211 RCV004546754

NM_004646.4(NPHS1):c.847C>T (p.Gln283Ter)

SNV
Germline

Chr19:35849141

Pathogenic/Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003032504 RCV003389266

NM_004646.4(NPHS1):c.1012+2T>A

SNV
Germline

Chr19:35848974

Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003032281 RCV003465903

NM_004646.4(NPHS1):c.1315+1G>A

SNV
Germline

Chr19:35848252

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003123446

NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter)

SNV
Germline

Chr19:35844451

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003155825

NM_004646.4(NPHS1):c.1001T>C (p.Leu334Pro)

SNV
Germline

Chr19:35848987

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003233060

NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)

SNV
Germline

Chr19:35844183

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003331616

NM_004646.4(NPHS1):c.2021C>T (p.Pro674Leu)

SNV
Unknown

Chr19:35844369

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003412538

NM_004646.4(NPHS1):c.2899G>A (p.Gly967Arg)

SNV
Unknown

Chr19:35839524

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003412540

NM_004646.4(NPHS1):c.3482-2A>C

SNV
Unknown

Chr19:35830958

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471550

NM_004646.4(NPHS1):c.840+1G>T

SNV
Unknown

Chr19:35849235

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003463188

NM_004646.4(NPHS1):c.1930+1G>A

SNV
Unknown

Chr19:35845367

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471551

NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)

SNV
Germline

Chr19:35849646

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471552 RCV003575105

NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter)

SNV
Unknown

Chr19:35831331

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471559

NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)

SNV
Unknown

Chr19:35839336

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471560

NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)

SNV
Unknown

Chr19:35831696

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003463193

NM_004646.4(NPHS1):c.527-2A>G

SNV
Unknown

Chr19:35850447

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471561

NM_004646.4(NPHS1):c.1838C>A (p.Ser613Ter)

SNV
Unknown

Chr19:35845460

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471563

NM_004646.4(NPHS1):c.2800C>T (p.Gln934Ter)

SNV
Unknown

Chr19:35841730

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471569

NM_004646.4(NPHS1):c.1013-1G>T

SNV
Unknown

Chr19:35848795

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471570

NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)

SNV
Unknown

Chr19:35839541

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471571

NM_004646.4(NPHS1):c.398-1G>C

SNV
Unknown

Chr19:35851090

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003463197

NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)

SNV
Unknown

Chr19:35839583

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003463198

NM_004646.4(NPHS1):c.2816-3T>G

SNV
Unknown

Chr19:35839610

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471574

NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)

SNV
Unknown

Chr19:35844108

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471577

NM_004646.4(NPHS1):c.3118C>T (p.Gln1040Ter)

SNV
Unknown

Chr19:35835753

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471579

NM_004646.4(NPHS1):c.397+1G>C

SNV
Germline

Chr19:35851261

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471581 RCV003689095

NM_004646.4(NPHS1):c.59-1G>T

SNV
Unknown

Chr19:35851673

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003471582

NM_004646.4(NPHS1):c.841-2A>C

SNV
Unknown

Chr19:35849149

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003476578

NM_004646.4(NPHS1):c.1930+5G>A

SNV
Unknown

Chr19:35845363

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003476580

NM_004646.4(NPHS1):c.3312-2A>T

SNV
Unknown

Chr19:35831373

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004574372

NM_004646.4(NPHS1):c.2521G>T (p.Glu841Ter)

SNV
Unknown

Chr19:35842266

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004574373

NM_004646.4(NPHS1):c.2386G>C (p.Gly796Arg)

SNV
Unknown

Chr19:35842499

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004574374

NM_004646.4(NPHS1):c.2515C>T (p.Gln839Ter)

SNV
Unknown

Chr19:35842272

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004574375

NM_004646.4(NPHS1):c.2760T>A (p.Cys920Ter)

SNV
Unknown

Chr19:35841770

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004574379

NM_004646.4(NPHS1):c.2334+2T>C

SNV
Unknown

Chr19:35843470

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004574382

NM_004646.4(NPHS1):c.2737C>T (p.Gln913Ter)

SNV
Unknown

Chr19:35841793

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004574383

NM_004646.4(NPHS1):c.3387+1G>A

SNV
Unknown

Chr19:35831295

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004574386

NM_004646.4(NPHS1):c.1627+1G>A

SNV
Unknown

Chr19:35846007

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004574388