Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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	14 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 Condition: not provided Congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA200833	rs_28939695	9 SubmittersRCV000157397 RCV000174106 RCV000490526 RCV000879499 RCV001123648 RCV002294056
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	SNV Germline	Chr19:35831056	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA250037	rs_267606919	24 SubmittersRCV000007276 RCV000808977 RCV001328091 RCV004955253
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	Pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250042	rs_267606918	8 SubmittersRCV001851717 RCV000007278
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)	SNV Germline	Chr19:35848788	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome NPHS1-related disorder Unexplained young onset end-stage renal disease	Criteria Provided Conflicting Classifications	CA250079	rs_386833861	7 SubmittersRCV000049830 RCV003421960 RCV006250217
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	4 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	12 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	13 SubmittersRCV000049834 RCV001380444 RCV002294007 RCV003415816
NM_004646.4(NPHS1):c.1100G>A (p.Arg367His)	SNV Germline	Chr19:35848707	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA250089	rs_200905486	4 SubmittersRCV000049835 RCV003556130 RCV004586526
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.1134G>A (p.Trp378Ter)	SNV Unknown	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 Unknown	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 NPHS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250107	rs_386833874	11 SubmittersRCV000049843 RCV001040489 RCV004751247
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)	SNV Germline	Chr19:35848334	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA250109	rs_142008044	4 SubmittersRCV000049845 RCV005089448
NM_004646.4(NPHS1):c.1250G>T (p.Cys417Phe)	SNV Unknown	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	7 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	16 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	Pathogenic/Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250125	rs_386833884	7 SubmittersRCV002513691 RCV000049855
NM_004646.4(NPHS1):c.1583G>T (p.Cys528Phe)	SNV Unknown	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 Unknown	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	Finnish congenital nephrotic syndrome Condition: not provided Infantile Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250131	rs_386833887	10 SubmittersRCV000049858 RCV000992445 RCV003407431
NM_004646.4(NPHS1):c.1707C>G (p.Ser569Arg)	SNV Unknown	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 Unknown	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 Unknown	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 Unknown	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	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome NPHS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250148	rs_386833895	14 SubmittersRCV000049866 RCV000811777 RCV001849305 RCV004751248
NM_004646.4(NPHS1):c.191G>C (p.Trp64Ser)	SNV Unknown	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	5 SubmittersRCV000049870 RCV002514254
NM_004646.4(NPHS1):c.2019C>A (p.Asn673Lys)	SNV Unknown	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 Unknown	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	4 SubmittersRCV000049875
NM_004646.4(NPHS1):c.2171C>G (p.Ser724Cys)	SNV Unknown	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 Unknown	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 Unknown	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	11 SubmittersRCV000049882 RCV000797708 RCV001328086
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)	SNV Germline	Chr19:35842481	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250181	rs_386833911	11 SubmittersRCV000049884 RCV000793793 RCV001328089
NM_004646.4(NPHS1):c.2405G>C (p.Arg802Pro)	SNV Unknown	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	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250185	rs_386833912	12 SubmittersRCV000049886 RCV000712426
NM_004646.4(NPHS1):c.2442C>G (p.Tyr814Ter)	SNV Unknown	Chr19:35842443	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA250187	rs_386833913	2 SubmittersRCV000049887
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)	SNV Germline	Chr19:35842394	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 Unknown	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 Unknown	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 Unknown	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	5 SubmittersRCV000049900 RCV002513692
NM_004646.4(NPHS1):c.2815+5G>A	SNV Unknown	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 Multiple Submitters No Conflicts	CA250214	rs_386833929	3 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	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250218	rs_386833932	7 SubmittersRCV000049906 RCV002513693 RCV006268100
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 Unknown	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 Unknown	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 Germline	Chr19:35826647	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250234	rs_386833940	3 SubmittersRCV000049915
NM_004646.4(NPHS1):c.398-1G>A	SNV Germline	Chr19:35851090	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250236	rs_386833942	5 SubmittersRCV000049917 RCV005089449
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 Germline	Chr19:35850987	Likely pathogenic	Finnish congenital nephrotic syndrome Steroid-resistant nephrotic syndrome Nephrotic range proteinuria Congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA250243	rs_386833945	4 SubmittersRCV000049920 RCV001003825
NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn)	SNV Unknown	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 Unknown	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 Unknown	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 Germline	Chr19:35851779	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250261	rs_386833954	2 SubmittersRCV000049929
NM_004646.4(NPHS1):c.609-2A>C	SNV Germline	Chr19:35849655	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Single Submitter	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 Single Submitter	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	5 SubmittersRCV000049936 RCV003320551
NM_004646.4(NPHS1):c.886G>A (p.Ala296Thr)	SNV Unknown	Chr19:35849102	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250277	rs_386833962	1 SubmittersRCV000049937
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.3173C>T (p.Ser1058Leu)	SNV Germline	Chr19:35831756	Conflicting classifications of pathogenicity	Familial idiopathic steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Condition: not provided NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA346574	rs_201503587	4 SubmittersRCV000157402 RCV001125550 RCV002053898 RCV003927520
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu)	SNV Germline	Chr19:35839550	Conflicting classifications of pathogenicity	Proteinuria Finnish congenital nephrotic syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA346571	rs_730880175	4 SubmittersRCV000157401 RCV002498780 RCV002515049 RCV002516361
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 Congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA346568	rs_114615449	7 SubmittersRCV000157400 RCV000354078 RCV000879498 RCV001094540 RCV002294058
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_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)	SNV Germline	Chr19:35831092	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250315	rs_150855173	8 SubmittersRCV000169477 RCV001220457
NM_004646.4(NPHS1):c.3312-1G>A	SNV Unknown	Chr19:35831372	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA250318	rs_786204729	1 SubmittersRCV000169569
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	SNV Germline	Chr19:35839418	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided Focal segmental glomerulosclerosis Nephrotic syndrome NPHS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250310	rs_138656762	12 SubmittersRCV000169078 RCV001222912 RCV001195706 RCV001328320 RCV003390881
NM_004646.4(NPHS1):c.2335-1G>A	SNV Germline	Chr19:35842551	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250309	rs_150038620	16 SubmittersRCV000169038 RCV000599036
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)	SNV Germline	Chr19:35850407	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 not specified	Criteria Provided Conflicting Classifications	CA067719	rs_114896482	8 SubmittersRCV000208010 RCV000675181 RCV000955035 RCV006456847
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 not specified	Criteria Provided Conflicting Classifications	CA352418	rs_539716201	4 SubmittersRCV000208400 RCV000923782 RCV001272301 RCV006439789
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	6 SubmittersRCV000490334 RCV000903298 RCV002271466
NM_004646.4(NPHS1):c.3165A>T (p.Ser1055=)	SNV Germline	Chr19:35835706	Conflicting classifications of pathogenicity	not specified Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9389905	rs_201738778	3 SubmittersRCV000251767 RCV005016652 RCV002518630
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	9 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	10 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 Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390925	rs_114595892	11 SubmittersRCV000253934 RCV000962680 RCV001124813 RCV001262358 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	8 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	13 SubmittersRCV000353631 RCV000665656 RCV000958774 RCV001125723 RCV002294214 RCV003920050
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=)	SNV Germline	Chr19:35831078	Conflicting classifications of pathogenicity	Condition: not provided NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9389752	rs_138092189	3 SubmittersRCV000400177 RCV003897607
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.2469G>A (p.Ala823=)	SNV Germline	Chr19:35842416	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9390129	rs_371646734	2 SubmittersRCV000289502 RCV001480138
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	6 SubmittersRCV000341078 RCV000889130 RCV001277287 RCV002294272
NM_004646.4(NPHS1):c.1758-11C>G	SNV Germline	Chr19:35845551	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Gastric cancer	Criteria Provided Conflicting Classifications	CA9390332	rs_145554982	5 SubmittersRCV000300502 RCV000590107 RCV005894817
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 Focal segmental glomerulosclerosis NPHS1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9390910	rs_375670819	6 SubmittersRCV000370301 RCV000889383 RCV001828323 RCV002294275 RCV003922400 RCV002521211
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 not specified	Criteria Provided Conflicting Classifications	CA9390367	rs_115444936	8 SubmittersRCV000366917 RCV000588114 RCV001277291 RCV006441924
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.733A>C (p.Ile245Leu)	SNV Germline	Chr19:35849343	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390673	rs_370046047	3 SubmittersRCV000374308 RCV000975533 RCV005025466
NM_004646.4(NPHS1):c.3388-14C>T	SNV Germline	Chr19:35831160	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9389767	rs_371907999	2 SubmittersRCV000265488 RCV001516943
NM_004646.4(NPHS1):c.3311+14T>C	SNV Germline	Chr19:35831462	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9389822	rs_375587420	2 SubmittersRCV000260065 RCV003556345
NM_004646.4(NPHS1):c.1799A>G (p.Lys600Arg)	SNV Germline	Chr19:35845499	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390317	rs_566516658	3 SubmittersRCV000397683 RCV000895246 RCV004720252
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	6 SubmittersRCV000387172 RCV000889132 RCV001272291 RCV002294273
NM_004646.4(NPHS1):c.151C>T (p.Leu51=)	SNV Germline	Chr19:35851580	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390896	rs_114385015	5 SubmittersRCV000306765 RCV000904238 RCV001272305 RCV002294274
NM_004646.4(NPHS1):c.3419G>A (p.Arg1140His)	SNV Germline	Chr19:35831115	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Inborn genetic diseases Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9389759	rs_369787477	4 SubmittersRCV000357710 RCV002057499 RCV003352839 RCV005025462
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.-57G>T	SNV Germline	Chr19:35851894	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10652382	rs_140404523	3 SubmittersRCV000330850 RCV003422304
NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter)	SNV Germline	Chr19:35844195	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Single Submitter	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	5 SubmittersRCV000412259 RCV001861377
NM_004646.4(NPHS1):c.1013-1G>C	SNV Unknown	Chr19:35848795	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA16041981	rs_1057517413	1 SubmittersRCV000410344
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)	SNV Germline	Chr19:35849122	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	No Assertion Criteria Provided	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 Congenital nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9389754	rs_143145248	5 SubmittersRCV000428437 RCV001124538 RCV001277277
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.3024A>G (p.Arg1008=)	SNV Germline	Chr19:35839322	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA507314001	rs_1131691606	6 SubmittersRCV000712429 RCV002489211
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	Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Condition: not provided NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9390387	rs_149598144	7 SubmittersRCV001127721 RCV001277293 RCV002060249 RCV003942697
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter)	SNV Germline	Chr19:35849274	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9390652	rs_749341977	8 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	CA307828969	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 Single Submitter	CA405417105	rs_758432802	2 SubmittersRCV000668394 RCV001378745
NM_004646.4(NPHS1):c.1931-1G>A	SNV Unknown	Chr19:35844460	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA405398211	rs_1555762381	1 SubmittersRCV000664936
NM_004646.4(NPHS1):c.2815+3A>G	SNV Germline	Chr19:35841712	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA658824410	rs_1223946044	3 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	CA9390561	rs_570069789	6 SubmittersRCV000665105 RCV001584530 RCV001855435
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)	SNV Germline	Chr19:35849060	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9390599	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	CA9390359	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	CA9389711	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	CA9389908	rs_140673499	4 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	CA307787363	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 Single Submitter	CA405410394	rs_1555763974	2 SubmittersRCV000665767 RCV001379711
NM_004646.4(NPHS1):c.3594+1G>A	SNV Germline	Chr19:35830843	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405415270	rs_1555758856	3 SubmittersRCV000668341
NM_004646.4(NPHS1):c.3286+5G>A	SNV Unknown	Chr19:35831638	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA658824409	rs_1555759089	2 SubmittersRCV000673085
NM_004646.4(NPHS1):c.3167-1G>A	SNV Unknown	Chr19:35831763	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA405417838	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	CA9389945	rs_762184939	6 SubmittersRCV000668878 RCV002531212
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)	SNV Germline	Chr19:35842124	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA405391027	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 not specified Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390314	rs_367976914	6 SubmittersRCV000671805 RCV000938880 RCV001125642 RCV001662739 RCV002294365
NM_004646.4(NPHS1):c.1757+1G>A	SNV Germline	Chr19:35845668	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405399610	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	CA9390351	rs_147641617	5 SubmittersRCV000669765 RCV000992446
NM_004646.4(NPHS1):c.1316-2A>G	SNV Unknown	Chr19:35848167	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA405404655	rs_1555763090	1 SubmittersRCV000673975
NM_004646.4(NPHS1):c.58+1G>A	SNV Unknown	Chr19:35851779	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405412543	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	CA9390760	rs_199646884	3 SubmittersRCV000681696 RCV001729682
NM_004646.4(NPHS1):c.1592G>T (p.Gly531Val)	SNV Germline	Chr19:35846043	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA405400175	rs_1281962144	1 SubmittersRCV000681795
NM_004646.4(NPHS1):c.2902G>T (p.Gly968Cys)	SNV Germline	Chr19:35839521	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided	CA405385884	rs_772979927	2 SubmittersRCV000735650
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter)	SNV Germline	Chr19:35849304	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405407125	rs_1568456335	1 SubmittersRCV001856161
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	CA9390128	rs_140018064	4 SubmittersRCV000780551 RCV002535676
NM_004646.4(NPHS1):c.2506+5G>T	SNV Germline	Chr19:35842374	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided Nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390120	rs_762704370	4 SubmittersRCV000785889 RCV001372765 RCV001849441
NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser)	SNV Germline	Chr19:35826642	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9389687	rs_35240811	6 SubmittersRCV000894151 RCV001124535 RCV001273380 RCV002294408
NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr)	SNV Germline	Chr19:35830918	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9389725	rs_115489112	5 SubmittersRCV000880449 RCV001124537 RCV003967977
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys)	SNV Germline	Chr19:35835741	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome Congenital nephrotic syndrome Focal segmental glomerulosclerosis NPHS1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9389910	rs_370387270	6 SubmittersRCV000889382 RCV001277279 RCV001127644 RCV002294402 RCV003910543 RCV002539384
NM_004646.4(NPHS1):c.1908C>T (p.Ser636=)	SNV Germline	Chr19:35845390	Conflicting classifications of pathogenicity	Condition: not provided Congenital nephrotic syndrome Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390301	rs_34761059	6 SubmittersRCV000894152 RCV001125639 RCV001275394 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	CA9390385	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 Focal segmental glomerulosclerosis not specified	Criteria Provided Conflicting Classifications	CA9390331	rs_187501631	7 SubmittersRCV000889131 RCV001127720 RCV001277288 RCV002294400 RCV002271594
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	CA9390509	rs_372069596	5 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	CA9390540	rs_114112112	6 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 not specified Finnish congenital nephrotic syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA9390651	rs_115308424	7 SubmittersRCV000898050 RCV001125719 RCV001796311 RCV001272296 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	CA9390947	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	CA9390908	rs_145683325	4 SubmittersRCV000912796 RCV001122046 RCV001272307
NM_004646.4(NPHS1):c.3649T>G (p.Tyr1217Asp)	SNV Germline	Chr19:35826591	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9389677	rs_114879227	2 SubmittersRCV000941008 RCV005029538
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	CA9389944	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	CA9390607	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 Finnish congenital nephrotic syndrome Congenital nephrotic syndrome NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9390795	rs_147569168	4 SubmittersRCV000944864 RCV001272302 RCV001127821 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	CA9389913	rs_190769116	4 SubmittersRCV000938233 RCV001277280 RCV002294417
NM_004646.4(NPHS1):c.3109+3G>T	SNV Germline	Chr19:35839234	Conflicting classifications of pathogenicity	Condition: not provided Kidney disorder NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9389928	rs_199888357	3 SubmittersRCV000935037 RCV002294416 RCV003933187
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	CA9390302	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	CA9390725	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	CA405417167	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	CA307782102	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	CA405407206	rs_1599845689	2 SubmittersRCV001004611 RCV003558637
NM_004646.4(NPHS1):c.3343G>T (p.Glu1115Ter)	SNV Germline	Chr19:35831340	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405416679	rs_1972879158	1 SubmittersRCV001054547
NM_004646.4(NPHS1):c.3100A>G (p.Thr1034Ala)	SNV Germline	Chr19:35839246	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9389931	rs_762614253	3 SubmittersRCV001055542 RCV001277281 RCV005453151
NM_004646.4(NPHS1):c.58+2T>C	SNV Germline	Chr19:35851778	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405412535	rs_1973271240	1 SubmittersRCV001051369
NM_004646.4(NPHS1):c.3687C>T (p.Pro1229=)	SNV Germline	Chr19:35826553	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9389669	rs_116744687	2 SubmittersRCV001123446 RCV001400184
NM_004646.4(NPHS1):c.3545C>T (p.Thr1182Met)	SNV Germline	Chr19:35830893	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9389721	rs_143003940	3 SubmittersRCV001124536 RCV002070029 RCV003246708
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	CA9389797	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	CA9389850	rs_144203682	3 SubmittersRCV001125549 RCV002482245 RCV002556722
NM_004646.4(NPHS1):c.2905C>T (p.Leu969=)	SNV Germline	Chr19:35839518	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9389987	rs_368639377	2 SubmittersRCV001127646 RCV002070085
NM_004646.4(NPHS1):c.1989G>A (p.Glu663=)	SNV Germline	Chr19:35844401	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA307783468	rs_909573287	2 SubmittersRCV001124632 RCV002070031
NM_004646.4(NPHS1):c.1790C>A (p.Ala597Asp)	SNV Germline	Chr19:35845508	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390320	rs_548304892	4 SubmittersRCV001127719 RCV002070086 RCV005029701
NM_004646.4(NPHS1):c.1378C>T (p.Arg460Trp)	SNV Germline	Chr19:35848103	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9390450	rs_749319334	2 SubmittersRCV001123646 RCV002556671
NM_004646.4(NPHS1):c.407A>G (p.Lys136Arg)	SNV Germline	Chr19:35851080	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9390807	rs_561948671	3 SubmittersRCV001127823 RCV002070486 RCV004032273
NM_004646.4(NPHS1):c.-140G>A	SNV Germline	Chr19:35851977	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA307791464	rs_79692855	2 SubmittersRCV001125801 RCV001585993
NM_004646.4(NPHS1):c.2507-13C>T	SNV Germline	Chr19:35842293	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9390098	rs_536518140	2 SubmittersRCV001123548 RCV002556669
NM_004646.4(NPHS1):c.2507-14C>T	SNV Germline	Chr19:35842294	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9390099	rs_777015846	2 SubmittersRCV001123549 RCV003718343
NM_004646.4(NPHS1):c.2334+9C>A	SNV Germline	Chr19:35843463	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA632776591	rs_756158801	3 SubmittersRCV001124628 RCV001422183 RCV003906234
NM_004646.4(NPHS1):c.1315+7C>T	SNV Germline	Chr19:35848246	Conflicting classifications of pathogenicity	Congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9390480	rs_370645778	2 SubmittersRCV001123649 RCV001413132
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	CA9389747	rs_142883811	7 SubmittersRCV001192699 RCV001383054
NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln)	SNV Germline	Chr19:35842480	Conflicting classifications of pathogenicity	Nephrotic syndrome Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9390141	rs_114203578	6 SubmittersRCV001195709 RCV003132258 RCV002560207
NM_004646.4(NPHS1):c.2870T>A (p.Val957Glu)	SNV Unknown	Chr19:35839553	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405386175	rs_763902818	1 SubmittersRCV001197140
NM_004646.4(NPHS1):c.2324G>A (p.Trp775Ter)	SNV Germline	Chr19:35843482	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405395854	rs_1973089176	1 SubmittersRCV001224578
NM_004646.4(NPHS1):c.3109+2T>G	SNV Germline	Chr19:35839235	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA9389929	rs_765534006	1 SubmittersRCV001204918
NM_004646.4(NPHS1):c.1567C>T (p.Gln523Ter)	SNV Germline	Chr19:35846068	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405400231	rs_1447842872	1 SubmittersRCV001227794
NM_004646.4(NPHS1):c.1156G>T (p.Glu386Ter)	SNV Germline	Chr19:35848651	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405406186	rs_1973180778	1 SubmittersRCV001237095
NM_004646.4(NPHS1):c.646G>C (p.Val216Leu)	SNV Germline	Chr19:35849616	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390710	rs_34673364	3 SubmittersRCV001241696 RCV001835110
NM_004646.4(NPHS1):c.1316-1G>C	SNV Germline	Chr19:35848166	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Single Submitter	CA405404643	rs_1973171785	2 SubmittersRCV001828852 RCV001232127
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	CA405397437	rs_764181464	6 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	CA405411347	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	CA9390693	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	CA9390657	rs_34982899	3 SubmittersRCV001354183 RCV002471093
NM_004646.4(NPHS1):c.3387+2T>C	SNV Germline	Chr19:35831294	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405416466	rs_2146807429	1 SubmittersRCV001379820
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)	SNV Germline	Chr19:35841802	Pathogenic/Likely pathogenic	Condition: not provided Nephrotic syndrome Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA307781932	rs_143649022	5 SubmittersRCV001376867 RCV001849512 RCV002476714
NM_004646.4(NPHS1):c.2507-2A>G	SNV Germline	Chr19:35842282	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405392348	rs_2146819530	1 SubmittersRCV001377900
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	CA405392460	rs_1973073001	3 SubmittersRCV001376877 RCV003469621
NM_004646.4(NPHS1):c.1097G>A (p.Ser366Asn)	SNV Germline	Chr19:35848710	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405406424	rs_2146827117	1 SubmittersRCV001377594
NM_004646.4(NPHS1):c.1049C>A (p.Ser350Tyr)	SNV Germline	Chr19:35848758	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405406527	rs_570069789	1 SubmittersRCV001377442
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	CA405407418	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	CA9390768	rs_771143648	2 SubmittersRCV001377151 RCV003405625
NM_004646.4(NPHS1):c.2686C>T (p.Gln896Ter)	SNV Germline	Chr19:35841844	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405390513	rs_771594710	1 SubmittersRCV001386181
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	CA9390544	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	CA405392264	rs_2146819513	1 SubmittersRCV001391131
NM_004646.4(NPHS1):c.2826C>T (p.Asp942=)	SNV Germline	Chr19:35839597	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA507314010	rs_748286841	2 SubmittersRCV001484086 RCV005023172
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	CA2333848378	rs_1973103431	3 SubmittersRCV001482020 RCV002501663
NM_004646.4(NPHS1):c.2072-6C>A	SNV Germline	Chr19:35844249	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390241	rs_200253809	2 SubmittersRCV001502521 RCV005023178
NM_004646.4(NPHS1):c.2927+2T>A	SNV Unknown	Chr19:35839494	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405385657	rs_1973023048	1 SubmittersRCV001535862
NM_004646.4(NPHS1):c.2761A>G (p.Thr921Ala)	SNV Germline	Chr19:35841769	Conflicting classifications of pathogenicity	Inborn genetic diseases Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9390033	rs_370844834	3 SubmittersRCV003161130 RCV001578736 RCV002072279
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	CA507075837	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	CA405397666	rs_2146822164	1 SubmittersRCV001733619 RCV002508810
NM_004646.4(NPHS1):c.1434G>A (p.Trp478Ter)	SNV Germline	Chr19:35848047	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA405403530	rs_1242448684	2 SubmittersRCV001782538 RCV005095136
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	CA405385548	rs_2146816353	2 SubmittersRCV001795593
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys)	SNV Germline	Chr19:35842197	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9390085	rs_752712664	4 SubmittersRCV001807994 RCV001869578 RCV003331209
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	CA9390655	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	CA9390083	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	CA307788164	rs_919999972	2 SubmittersRCV001849647 RCV002250775
NM_004646.4(NPHS1):c.2014G>A (p.Ala672Thr)	SNV Germline	Chr19:35844376	Likely pathogenic	Nephrotic syndrome	No Assertion Criteria Provided	CA405397911	rs_1352354716	1 SubmittersRCV001849788
NM_004646.4(NPHS1):c.2335-2A>G	SNV Germline	Chr19:35842552	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405394148	rs_2146819931	1 SubmittersRCV001880631
NM_004646.4(NPHS1):c.275-1G>C	SNV Germline	Chr19:35851385	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA307790752	rs_144118716	1 SubmittersRCV001970325
NM_004646.4(NPHS1):c.2132G>C (p.Arg711Pro)	SNV Germline	Chr19:35844183	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405397435	rs_926025297	1 SubmittersRCV002039043
NM_004646.4(NPHS1):c.1121G>A (p.Trp374Ter)	SNV Germline	Chr19:35848686	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405406359	rs_2146827068	1 SubmittersRCV001897712
NM_004646.4(NPHS1):c.2815+1G>C	SNV Germline	Chr19:35841714	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405388939	rs_2146818902	1 SubmittersRCV001968989
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 NPHS1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9390410	rs_373264146	5 SubmittersRCV001933203 RCV002284224 RCV002484498 RCV004752102 RCV005443465
NM_004646.4(NPHS1):c.2387G>A (p.Gly796Glu)	SNV Germline	Chr19:35842498	Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405393664	rs_2146819844	2 SubmittersRCV001996537 RCV004594618
NM_004646.4(NPHS1):c.1867T>C (p.Cys623Arg)	SNV Germline	Chr19:35845431	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405399091	rs_2146823273	1 SubmittersRCV001969540
NM_004646.4(NPHS1):c.1279G>T (p.Glu427Ter)	SNV Germline	Chr19:35848289	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405405097	rs_2146826513	1 SubmittersRCV001888391
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	CA9390485	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	CA405412314	rs_1450477596	2 SubmittersRCV001891874 RCV003464200
NM_004646.4(NPHS1):c.938C>T (p.Ala313Val)	SNV Germline	Chr19:35849050	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390598	rs_755752316	3 SubmittersRCV001987895 RCV004651864 RCV005025490
NM_004646.4(NPHS1):c.322G>T (p.Glu108Ter)	SNV Germline	Chr19:35851337	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405410899	rs_2146831931	1 SubmittersRCV001921322
NM_004646.4(NPHS1):c.2416G>A (p.Ala806Thr)	SNV Germline	Chr19:35842469	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405393371	rs_2146819794	1 SubmittersRCV002018828
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	CA9389830	rs_758432802	4 SubmittersRCV002009317 RCV002486667
NM_004646.4(NPHS1):c.479G>A (p.Cys160Tyr)	SNV Germline	Chr19:35851008	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405409909	rs_386833944	1 SubmittersRCV001941923
NM_004646.4(NPHS1):c.3110-2A>G	SNV Germline	Chr19:35835763	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405419280	rs_2146812253	1 SubmittersRCV002009388
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	CA9390788	rs_371515262	4 SubmittersRCV002025509 RCV003471227
NM_004646.4(NPHS1):c.397+2T>A	SNV Germline	Chr19:35851260	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405410442	rs_1054950770	1 SubmittersRCV002018437
NM_004646.4(NPHS1):c.450G>A (p.Trp150Ter)	SNV Germline	Chr19:35851037	Pathogenic/Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405410077	rs_2146831207	2 SubmittersRCV001953582 RCV005025528
NM_004646.4(NPHS1):c.795C>A (p.Cys265Ter)	SNV Germline	Chr19:35849281	Pathogenic/Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405407079	rs_779099247	2 SubmittersRCV001975249 RCV004816835
NM_004646.4(NPHS1):c.2083C>T (p.Arg695Trp)	SNV Germline	Chr19:35844232	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405397607	rs_2146822039	1 SubmittersRCV002023795
NM_004646.4(NPHS1):c.608+1G>T	SNV Germline	Chr19:35850363	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405408806	rs_2146829967	1 SubmittersRCV002024061
NM_004646.4(NPHS1):c.1441-1G>T	SNV Germline	Chr19:35846195	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405401131	rs_2146824388	1 SubmittersRCV002038498
NM_004646.4(NPHS1):c.3249G>T (p.Gly1083=)	SNV Germline	Chr19:35831680	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9389859	rs_779723501	2 SubmittersRCV002109386 RCV005025705
NM_004646.4(NPHS1):c.887C>T (p.Ala296Val)	SNV Germline	Chr19:35849101	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9390608	rs_200621047	2 SubmittersRCV002188375 RCV003348813
NM_004646.4(NPHS1):c.1734G>A (p.Leu578=)	SNV Germline	Chr19:35845692	Conflicting classifications of pathogenicity	Condition: not provided Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA507314213	rs_1973129633	2 SubmittersRCV002183546 RCV002294513
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)	SNV Germline	Chr19:35845385	Conflicting classifications of pathogenicity	not specified Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390299	rs_141141839	3 SubmittersRCV002283401 RCV003101624 RCV005025762
NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln)	SNV Germline	Chr19:35848114	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9390453	rs_146290709	3 SubmittersRCV002283822 RCV003101630 RCV004690282
NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)	SNV Germline	Chr19:35842244	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390089	rs_148115230	3 SubmittersRCV002294646 RCV003097856 RCV004720361
NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)	SNV Germline	Chr19:35842270	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis Condition: not provided NPHS1-related disorder	Criteria Provided Conflicting Classifications	CA9390095	rs_141886345	3 SubmittersRCV002294647 RCV003097857 RCV003896114
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	CA405410510	rs_2513784716	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	CA405391694	rs_2513769124	1 SubmittersRCV002302520
NM_004646.4(NPHS1):c.3594+2T>C	SNV Germline	Chr19:35830842	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405415266	rs_1972867616	1 SubmittersRCV006460115
NM_004646.4(NPHS1):c.1925T>C (p.Val642Ala)	SNV Germline	Chr19:35845373	Likely pathogenic	Congenital and infantile nephrotic syndrome	No Assertion Criteria Provided	CA405398251	rs_2513773078	1 SubmittersRCV002306451
NM_004646.4(NPHS1):c.3357G>A (p.Trp1119Ter)	SNV Unknown	Chr19:35831326	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405416593	rs_2513755521	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	CA405408405	rs_1347730847	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	CA405410805	rs_755089331	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	CA405411075	rs_1006352232	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	CA405412453	rs_2513786480	1 SubmittersRCV002307169
NM_004646.4(NPHS1):c.187C>T (p.Gln63Ter)	SNV Germline	Chr19:35851544	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405411591	rs_2513785885	2 SubmittersRCV002310466
NM_004646.4(NPHS1):c.2931T>G (p.Tyr977Ter)	SNV Unknown	Chr19:35839415	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405385538	rs_2146816347	1 SubmittersRCV002505930
NM_004646.4(NPHS1):c.2734G>A (p.Ala912Thr)	SNV Germline	Chr19:35841796	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA307781909	rs_763162233	2 SubmittersRCV003064576 RCV005028144
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)	SNV Germline	Chr19:35846065	Conflicting classifications of pathogenicity	Condition: not provided not specified Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA405400226	rs_2513774296	3 SubmittersRCV003064579 RCV003331420 RCV005608858
NM_004646.4(NPHS1):c.3722T>C (p.Val1241Ala)	SNV Germline	Chr19:35826518	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9389661	rs_151121915	2 SubmittersRCV003052829 RCV005685105
NM_004646.4(NPHS1):c.736G>A (p.Glu246Lys)	SNV Germline	Chr19:35849340	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9390672	rs_386833959	2 SubmittersRCV003062732 RCV004960945
NM_004646.4(NPHS1):c.1220G>A (p.Arg407Gln)	SNV Germline	Chr19:35848348	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390500	rs_199735886	2 SubmittersRCV003076842 RCV005028172
NM_004646.4(NPHS1):c.713-10T>C	SNV Germline	Chr19:35849373	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390680	rs_372079888	2 SubmittersRCV003056683 RCV005028152
NM_004646.4(NPHS1):c.3312-1G>C	SNV Germline	Chr19:35831372	Pathogenic/Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405416857	rs_786204729	3 SubmittersRCV003065234 RCV003465942
NM_004646.4(NPHS1):c.796G>A (p.Val266Met)	SNV Germline	Chr19:35849280	Conflicting classifications of pathogenicity	Condition: not provided NPHS1-related disorder Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390653	rs_755132744	3 SubmittersRCV003063551 RCV003906475 RCV005028176
NM_004646.4(NPHS1):c.133G>A (p.Glu45Lys)	SNV Germline	Chr19:35851598	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9390904	rs_199932050	2 SubmittersRCV003077743 RCV004071756
NM_004646.4(NPHS1):c.2597G>A (p.Arg866Gln)	SNV Germline	Chr19:35842190	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA307782190	rs_868576714	2 SubmittersRCV003084583 RCV005685133
NM_004646.4(NPHS1):c.2399G>A (p.Arg800His)	SNV Germline	Chr19:35842486	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390143	rs_146400394	2 SubmittersRCV002598900 RCV005028242
NM_004646.4(NPHS1):c.991G>A (p.Gly331Ser)	SNV Germline	Chr19:35848997	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390587	rs_755741122	2 SubmittersRCV002610110 RCV005028245
NM_004646.4(NPHS1):c.3367C>G (p.Arg1123Gly)	SNV Germline	Chr19:35831316	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA9389794	rs_373931233	2 SubmittersRCV002603645
NM_004646.4(NPHS1):c.620G>A (p.Arg207Gln)	SNV Germline	Chr19:35849642	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390716	rs_114428177	3 SubmittersRCV002644405 RCV004072082 RCV005028312
NM_004646.4(NPHS1):c.722G>A (p.Gly241Glu)	SNV Germline	Chr19:35849354	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390677	rs_774808086	2 SubmittersRCV003104840 RCV005029899
NM_004646.4(NPHS1):c.3364G>T (p.Glu1122Ter)	SNV Germline	Chr19:35831319	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405416555	rs_548792892	1 SubmittersRCV003116243
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	CA9390400	rs_138852882	3 SubmittersRCV002601230 RCV003464570
NM_004646.4(NPHS1):c.2T>C (p.Met1Thr)	SNV Germline	Chr19:35851836	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA307791385	rs_942323517	1 SubmittersRCV002681527
NM_004646.4(NPHS1):c.2443C>T (p.Gln815Ter)	SNV Germline	Chr19:35842442	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405393110	rs_2513769477	1 SubmittersRCV002833761
NM_004646.4(NPHS1):c.1831C>T (p.Gln611Ter)	SNV Germline	Chr19:35845467	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405399346	rs_2513773327	1 SubmittersRCV002829438
NM_004646.4(NPHS1):c.3259C>T (p.Gln1087Ter)	SNV Germline	Chr19:35831670	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405417316	rs_1440975003	1 SubmittersRCV002838602
NM_004646.4(NPHS1):c.2386G>T (p.Gly796Ter)	SNV Germline	Chr19:35842499	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405393677	rs_1462077116	1 SubmittersRCV002875677
NM_004646.4(NPHS1):c.928G>T (p.Asp310Tyr)	SNV Germline	Chr19:35849060	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405406796	rs_763972372	1 SubmittersRCV002885067
NM_004646.4(NPHS1):c.1559C>A (p.Ser520Ter)	SNV Germline	Chr19:35846076	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405400252	rs_2513774314	1 SubmittersRCV002908594
NM_004646.4(NPHS1):c.2667C>A (p.Tyr889Ter)	SNV Germline	Chr19:35841863	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405390803	rs_1384985862	1 SubmittersRCV002867692
NM_004646.4(NPHS1):c.1914T>A (p.Tyr638Ter)	SNV Germline	Chr19:35845384	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405398294	rs_2513773107	1 SubmittersRCV002885160
NM_004646.4(NPHS1):c.3554C>T (p.Pro1185Leu)	SNV Germline	Chr19:35830884	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9389714	rs_555255264	3 SubmittersRCV002995211 RCV004546754 RCV006377786
NM_004646.4(NPHS1):c.2927+1G>T	SNV Germline	Chr19:35839495	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405385661	rs_386833930	1 SubmittersRCV003021826
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	CA405406962	rs_2513778871	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	CA405406609	rs_1430436552	2 SubmittersRCV003032281 RCV003465903
NM_004646.4(NPHS1):c.274+2T>A	SNV Germline	Chr19:35851455	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405411236	rs_2513785558	1 SubmittersRCV003038287
NM_004646.4(NPHS1):c.314A>C (p.Asp105Ala)	SNV Germline	Chr19:35851345	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405410950	rs_2513785055	1 SubmittersRCV003040380
NM_004646.4(NPHS1):c.2353C>T (p.Gln785Ter)	SNV Germline	Chr19:35842532	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405393945	rs_781299519	1 SubmittersRCV003030179
NM_004646.4(NPHS1):c.3481+2T>C	SNV Germline	Chr19:35831051	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405415628	rs_2513754818	1 SubmittersRCV003044165
NM_004646.4(NPHS1):c.1315+1G>A	SNV Germline	Chr19:35848252	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405404745	rs_2513776700	2 SubmittersRCV003123446
NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter)	SNV Germline	Chr19:35844451	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405398185	rs_1568454093	2 SubmittersRCV003155825
NM_004646.4(NPHS1):c.1001T>C (p.Leu334Pro)	SNV Germline	Chr19:35848987	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405406637	rs_1235916533	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	CA307783285	rs_926025297	3 SubmittersRCV003331616
NM_004646.4(NPHS1):c.2021C>T (p.Pro674Leu)	SNV Unknown	Chr19:35844369	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405397879	rs_2513771917	1 SubmittersRCV003412538
NM_004646.4(NPHS1):c.2899G>A (p.Gly967Arg)	SNV Unknown	Chr19:35839524	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405385908	rs_1973023933	1 SubmittersRCV003412540
NM_004646.4(NPHS1):c.3482-2A>C	SNV Unknown	Chr19:35830958	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405415611	rs_2513754603	1 SubmittersRCV003471550
NM_004646.4(NPHS1):c.840+1G>T	SNV Unknown	Chr19:35849235	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405406988	rs_1374214589	1 SubmittersRCV003463188
NM_004646.4(NPHS1):c.1930+1G>A	SNV Unknown	Chr19:35845367	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405398235	rs_2513773063	1 SubmittersRCV003471551
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)	SNV Germline	Chr19:35849646	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9390718	rs_201822740	6 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	CA405416620	rs_1438328274	1 SubmittersRCV003471559
NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)	SNV Germline	Chr19:35839336	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA405385129	rs_2513765764	2 SubmittersRCV003471560 RCV005100197
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)	SNV Germline	Chr19:35831696	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9389867	rs_775829291	2 SubmittersRCV003463193
NM_004646.4(NPHS1):c.527-2A>G	SNV Unknown	Chr19:35850447	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405409571	rs_2513782308	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	CA405399307	rs_2513773320	1 SubmittersRCV003471563
NM_004646.4(NPHS1):c.2800C>T (p.Gln934Ter)	SNV Unknown	Chr19:35841730	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405389122	rs_2513768306	1 SubmittersRCV003471569
NM_004646.4(NPHS1):c.1013-1G>T	SNV Unknown	Chr19:35848795	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405406603	rs_1057517413	1 SubmittersRCV003471570
NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)	SNV Germline	Chr19:35839541	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405386057	rs_1202202990	2 SubmittersRCV003471571
NM_004646.4(NPHS1):c.398-1G>C	SNV Germline	Chr19:35851090	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405410384	rs_386833942	2 SubmittersRCV003463197
NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)	SNV Unknown	Chr19:35839583	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405386452	rs_2513766220	1 SubmittersRCV003463198
NM_004646.4(NPHS1):c.2816-3T>G	SNV Unknown	Chr19:35839610	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA2695198177	rs_746769666	1 SubmittersRCV003471574
NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)	SNV Germline	Chr19:35844108	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405397151	rs_1973100441	3 SubmittersRCV003471577
NM_004646.4(NPHS1):c.3118C>T (p.Gln1040Ter)	SNV Unknown	Chr19:35835753	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405419242	rs_1972948538	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	CA9390825	rs_756244380	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	CA405412504	rs_2513786564	1 SubmittersRCV003471582
NM_004646.4(NPHS1):c.841-2A>C	SNV Germline	Chr19:35849149	Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA405406981	rs_2513778898	2 SubmittersRCV003476578 RCV005100198
NM_004646.4(NPHS1):c.1930+5G>A	SNV Germline	Chr19:35845363	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA307783853	rs_1017855149	3 SubmittersRCV003476580
NM_004646.4(NPHS1):c.1124G>A (p.Trp375Ter)	SNV Germline	Chr19:35848683	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405406340	rs_2513777815	1 SubmittersRCV003544363
NM_004646.4(NPHS1):c.2784G>A (p.Ser928=)	SNV Germline	Chr19:35841746	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390029	rs_200265333	2 SubmittersRCV003545137 RCV005030076
NM_004646.4(NPHS1):c.1440+1G>A	SNV Germline	Chr19:35848040	Pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405403477	rs_766278192	2 SubmittersRCV003560106 RCV005030119
NM_004646.4(NPHS1):c.275-14G>A	SNV Germline	Chr19:35851398	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA9390862	rs_377446423	2 SubmittersRCV003555796 RCV005014789
NM_004646.4(NPHS1):c.712+1G>A	SNV Germline	Chr19:35849549	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405407901	rs_2513779821	1 SubmittersRCV003568856
NM_004646.4(NPHS1):c.104G>A (p.Trp35Ter)	SNV Germline	Chr19:35851627	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405412320	rs_2513786285	1 SubmittersRCV003665246
NM_004646.4(NPHS1):c.951C>A (p.Cys317Ter)	SNV Germline	Chr19:35849037	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405406746	rs_759559801	1 SubmittersRCV003661180
NM_004646.4(NPHS1):c.2816-2A>G	SNV Germline	Chr19:35839609	Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405386704	rs_2513766258	2 SubmittersRCV003682156 RCV005609028
NM_004646.4(NPHS1):c.287T>A (p.Leu96Gln)	SNV Germline	Chr19:35851372	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405411125	rs_2513785174	1 SubmittersRCV003685149
NM_004646.4(NPHS1):c.2927+1G>C	SNV Germline	Chr19:35839495	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405385672	rs_386833930	1 SubmittersRCV003687899
NM_004646.4(NPHS1):c.2507-11T>A	SNV Germline	Chr19:35842291	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA995499256	rs_1973070541	2 SubmittersRCV003820368 RCV005014994
NM_004646.4(NPHS1):c.447C>G (p.Thr149=)	SNV Germline	Chr19:35851040	Conflicting classifications of pathogenicity	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications	CA307790260	rs_1000712587	2 SubmittersRCV003839897 RCV005030311
NM_004646.4(NPHS1):c.713-1G>A	SNV Germline	Chr19:35849364	Pathogenic/Likely pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405407410	rs_2513779373	2 SubmittersRCV003854992 RCV005030331
NM_004646.4(NPHS1):c.2927+2T>C	SNV Germline	Chr19:35839494	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA405385651	rs_1973023048	1 SubmittersRCV003852599
NM_004646.4(NPHS1):c.1437C>G (p.Tyr479Ter)	SNV Germline	Chr19:35848044	Pathogenic	Condition: not provided Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter	CA405403504	rs_1973169054	2 SubmittersRCV003876246 RCV005610650
NM_004646.4(NPHS1):c.3312-2A>T	SNV Unknown	Chr19:35831373	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_1290982641	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		rs_769092288	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		rs_1462077116	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		rs_2513769229	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		rs_2513768382	1 SubmittersRCV004574379
NM_004646.4(NPHS1):c.2334+2T>C	SNV Unknown	Chr19:35843470	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_1306056914	1 SubmittersRCV004574382
NM_004646.4(NPHS1):c.2737C>T (p.Gln913Ter)	SNV Germline	Chr19:35841793	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_758406223	2 SubmittersRCV004574383 RCV005059556
NM_004646.4(NPHS1):c.3387+1G>A	SNV Unknown	Chr19:35831295	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_2513755430	1 SubmittersRCV004574386
NM_004646.4(NPHS1):c.1627+1G>A	SNV Unknown	Chr19:35846007	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_2513774191	1 SubmittersRCV004574388
NM_004646.4(NPHS1):c.1707C>A (p.Ser569Arg)	SNV Germline	Chr19:35845719	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter		rs_386833888	1 SubmittersRCV004594767
NM_004646.4(NPHS1):c.2343T>A (p.Asp781Glu)	SNV Germline	Chr19:35842542	Conflicting classifications of pathogenicity	Inborn genetic diseases Finnish congenital nephrotic syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004644092 RCV005015221
NM_004646.4(NPHS1):c.1255G>A (p.Ala419Thr)	SNV Germline	Chr19:35848313	Likely pathogenic	NPHS1-related disorder	No Assertion Criteria Provided			1 SubmittersRCV004731775
NM_004646.4(NPHS1):c.397+3A>G	SNV Germline	Chr19:35851259	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004787552
NM_004646.4(NPHS1):c.1250G>A (p.Cys417Tyr)	SNV Germline	Chr19:35848318	Likely pathogenic	Nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004799074
NM_004646.4(NPHS1):c.3258G>A (p.Trp1086Ter)	SNV Germline	Chr19:35831671	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005028493
NM_004646.4(NPHS1):c.2664-2A>G	SNV Germline	Chr19:35841868	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005028502
NM_004646.4(NPHS1):c.2655A>G (p.Gln885=)	SNV Germline	Chr19:35842132	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005028504 RCV006617379
NM_004646.4(NPHS1):c.2347G>T (p.Glu783Ter)	SNV Germline	Chr19:35842538	Pathogenic/Likely pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV005022965 RCV005063220
NM_004646.4(NPHS1):c.2134G>T (p.Ala712Ser)	SNV Germline	Chr19:35844181	Conflicting classifications of pathogenicity	Finnish congenital nephrotic syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005022969 RCV006373434
NM_004646.4(NPHS1):c.1628-2A>G	SNV Germline	Chr19:35845800	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005028522
NM_004646.4(NPHS1):c.1628-10C>A	SNV Germline	Chr19:35845808	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005028523
NM_004646.4(NPHS1):c.925G>T (p.Glu309Ter)	SNV Germline	Chr19:35849063	Pathogenic	Finnish congenital nephrotic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005028544 RCV005063221
NM_004646.4(NPHS1):c.526+5G>T	SNV Germline	Chr19:35850956	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005028555
NM_004646.4(NPHS1):c.397+1G>A	SNV Germline	Chr19:35851261	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005028558
NM_004646.4(NPHS1):c.3G>T (p.Met1Ile)	SNV Germline	Chr19:35851835	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005022980
NM_004646.4(NPHS1):c.3482-1G>A	SNV Germline	Chr19:35830957	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005088518
NM_004646.4(NPHS1):c.741G>A (p.Trp247Ter)	SNV Germline	Chr19:35849335	Pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005088519
NM_004646.4(NPHS1):c.3166+2C>G	SNV Germline	Chr19:35835703	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005148156
NM_004646.4(NPHS1):c.2212+2T>C	SNV Germline	Chr19:35844101	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005407528
NM_004646.4(NPHS1):c.2836G>T (p.Gly946Ter)	SNV Germline	Chr19:35839587	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided			1 SubmittersRCV005609327
NM_004646.4(NPHS1):c.275-1G>A	SNV Germline	Chr19:35851385	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided			1 SubmittersRCV005609329
NM_004646.4(NPHS1):c.2928-1G>C	SNV Germline	Chr19:35839419	Likely pathogenic	Finnish congenital nephrotic syndrome	No Assertion Criteria Provided			1 SubmittersRCV005609362
NM_004646.4(NPHS1):c.1171-1G>C	SNV Unknown	Chr19:35848398	Likely pathogenic	Finnish congenital nephrotic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005637762

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

14 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
Condition: not provided
Congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA200833

rs_28939695

9 SubmittersRCV000157397 RCV000174106 RCV000490526 RCV000879499 RCV001123648 RCV002294056

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

SNV
Germline

Chr19:35831056

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA250037

rs_267606919

24 SubmittersRCV000007276 RCV000808977 RCV001328091 RCV004955253

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

Pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250042

rs_267606918

8 SubmittersRCV001851717 RCV000007278

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

SNV
Germline

Chr19:35848788

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
NPHS1-related disorder
Unexplained young onset end-stage renal disease

Criteria Provided
Conflicting Classifications

CA250079

rs_386833861

7 SubmittersRCV000049830 RCV003421960 RCV006250217

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

4 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

12 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

13 SubmittersRCV000049834 RCV001380444 RCV002294007 RCV003415816

NM_004646.4(NPHS1):c.1100G>A (p.Arg367His)

SNV
Germline

Chr19:35848707

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA250089

rs_200905486

4 SubmittersRCV000049835 RCV003556130 RCV004586526

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.1134G>A (p.Trp378Ter)

SNV
Unknown

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
Unknown

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
NPHS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA250107

rs_386833874

11 SubmittersRCV000049843 RCV001040489 RCV004751247

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

SNV
Germline

Chr19:35848334

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250109

rs_142008044

4 SubmittersRCV000049845 RCV005089448

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

SNV
Unknown

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

7 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

16 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

Pathogenic/Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250125

rs_386833884

7 SubmittersRCV002513691 RCV000049855

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

SNV
Unknown

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
Unknown

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

Finnish congenital nephrotic syndrome
Condition: not provided
Infantile Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250131

rs_386833887

10 SubmittersRCV000049858 RCV000992445 RCV003407431

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

SNV
Unknown

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
Unknown

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
Unknown

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
Unknown

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA250148

rs_386833895

14 SubmittersRCV000049866 RCV000811777 RCV001849305 RCV004751248

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

SNV
Unknown

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

5 SubmittersRCV000049870 RCV002514254

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

SNV
Unknown

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
Unknown

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

4 SubmittersRCV000049875

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

SNV
Unknown

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
Unknown

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
Unknown

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

11 SubmittersRCV000049882 RCV000797708 RCV001328086

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

SNV
Germline

Chr19:35842481

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250181

rs_386833911

11 SubmittersRCV000049884 RCV000793793 RCV001328089

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

SNV
Unknown

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

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250185

rs_386833912

12 SubmittersRCV000049886 RCV000712426

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

SNV
Unknown

Chr19:35842443

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA250187

rs_386833913

2 SubmittersRCV000049887

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

SNV
Germline

Chr19:35842394

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
Unknown

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
Unknown

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
Unknown

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

5 SubmittersRCV000049900 RCV002513692

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

SNV
Unknown

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
Multiple Submitters
No Conflicts

CA250214

rs_386833929

3 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

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided
Nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250218

rs_386833932

7 SubmittersRCV000049906 RCV002513693 RCV006268100

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
Unknown

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
Unknown

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
Germline

Chr19:35826647

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA250234

rs_386833940

3 SubmittersRCV000049915

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

SNV
Germline

Chr19:35851090

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250236

rs_386833942

5 SubmittersRCV000049917 RCV005089449

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
Germline

Chr19:35850987

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA250243

rs_386833945

4 SubmittersRCV000049920 RCV001003825

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

SNV
Unknown

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
Unknown

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
Unknown

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
Germline

Chr19:35851779

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250261

rs_386833954

2 SubmittersRCV000049929

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

SNV
Germline

Chr19:35849655

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Single Submitter

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
Single Submitter

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

5 SubmittersRCV000049936 RCV003320551

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

SNV
Unknown

Chr19:35849102

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250277

rs_386833962

1 SubmittersRCV000049937

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.3173C>T (p.Ser1058Leu)

SNV
Germline

Chr19:35831756

Conflicting classifications of pathogenicity

Familial idiopathic steroid-resistant nephrotic syndrome
Congenital nephrotic syndrome
Condition: not provided
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA346574

rs_201503587

4 SubmittersRCV000157402 RCV001125550 RCV002053898 RCV003927520

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

SNV
Germline

Chr19:35839550

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346571

rs_730880175

4 SubmittersRCV000157401 RCV002498780 RCV002515049 RCV002516361

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
Congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA346568

rs_114615449

7 SubmittersRCV000157400 RCV000354078 RCV000879498 RCV001094540 RCV002294058

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_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)

SNV
Germline

Chr19:35831092

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250315

rs_150855173

8 SubmittersRCV000169477 RCV001220457

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

SNV
Unknown

Chr19:35831372

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA250318

rs_786204729

1 SubmittersRCV000169569

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

SNV
Germline

Chr19:35839418

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA250310

rs_138656762

12 SubmittersRCV000169078 RCV001222912 RCV001195706 RCV001328320 RCV003390881

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

SNV
Germline

Chr19:35842551

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250309

rs_150038620

16 SubmittersRCV000169038 RCV000599036

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

SNV
Germline

Chr19:35850407

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
not specified

Criteria Provided
Conflicting Classifications

CA067719

rs_114896482

8 SubmittersRCV000208010 RCV000675181 RCV000955035 RCV006456847

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
not specified

Criteria Provided
Conflicting Classifications

CA352418

rs_539716201

4 SubmittersRCV000208400 RCV000923782 RCV001272301 RCV006439789

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

6 SubmittersRCV000490334 RCV000903298 RCV002271466

NM_004646.4(NPHS1):c.3165A>T (p.Ser1055=)

SNV
Germline

Chr19:35835706

Conflicting classifications of pathogenicity

not specified
Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9389905

rs_201738778

3 SubmittersRCV000251767 RCV005016652 RCV002518630

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

9 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

10 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
Condition: not provided
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390925

rs_114595892

11 SubmittersRCV000253934 RCV000962680 RCV001124813 RCV001262358 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

8 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

13 SubmittersRCV000353631 RCV000665656 RCV000958774 RCV001125723 RCV002294214 RCV003920050

NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=)

SNV
Germline

Chr19:35831078

Conflicting classifications of pathogenicity

Condition: not provided
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9389752

rs_138092189

3 SubmittersRCV000400177 RCV003897607

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.2469G>A (p.Ala823=)

SNV
Germline

Chr19:35842416

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9390129

rs_371646734

2 SubmittersRCV000289502 RCV001480138

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

6 SubmittersRCV000341078 RCV000889130 RCV001277287 RCV002294272

NM_004646.4(NPHS1):c.1758-11C>G

SNV
Germline

Chr19:35845551

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Gastric cancer

Criteria Provided
Conflicting Classifications

CA9390332

rs_145554982

5 SubmittersRCV000300502 RCV000590107 RCV005894817

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
Focal segmental glomerulosclerosis
NPHS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9390910

rs_375670819

6 SubmittersRCV000370301 RCV000889383 RCV001828323 RCV002294275 RCV003922400 RCV002521211

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
not specified

Criteria Provided
Conflicting Classifications

CA9390367

rs_115444936

8 SubmittersRCV000366917 RCV000588114 RCV001277291 RCV006441924

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.733A>C (p.Ile245Leu)

SNV
Germline

Chr19:35849343

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390673

rs_370046047

3 SubmittersRCV000374308 RCV000975533 RCV005025466

NM_004646.4(NPHS1):c.3388-14C>T

SNV
Germline

Chr19:35831160

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9389767

rs_371907999

2 SubmittersRCV000265488 RCV001516943

NM_004646.4(NPHS1):c.3311+14T>C

SNV
Germline

Chr19:35831462

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9389822

rs_375587420

2 SubmittersRCV000260065 RCV003556345

NM_004646.4(NPHS1):c.1799A>G (p.Lys600Arg)

SNV
Germline

Chr19:35845499

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390317

rs_566516658

3 SubmittersRCV000397683 RCV000895246 RCV004720252

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

6 SubmittersRCV000387172 RCV000889132 RCV001272291 RCV002294273

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

SNV
Germline

Chr19:35851580

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9390896

rs_114385015

5 SubmittersRCV000306765 RCV000904238 RCV001272305 RCV002294274

NM_004646.4(NPHS1):c.3419G>A (p.Arg1140His)

SNV
Germline

Chr19:35831115

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9389759

rs_369787477

4 SubmittersRCV000357710 RCV002057499 RCV003352839 RCV005025462

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.-57G>T

SNV
Germline

Chr19:35851894

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10652382

rs_140404523

3 SubmittersRCV000330850 RCV003422304

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

SNV
Germline

Chr19:35844195

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Single Submitter

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

5 SubmittersRCV000412259 RCV001861377

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

SNV
Unknown

Chr19:35848795

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA16041981

rs_1057517413

1 SubmittersRCV000410344

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

SNV
Germline

Chr19:35849122

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

No Assertion Criteria Provided

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
Congenital nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9389754

rs_143145248

5 SubmittersRCV000428437 RCV001124538 RCV001277277

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.3024A>G (p.Arg1008=)

SNV
Germline

Chr19:35839322

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA507314001

rs_1131691606

6 SubmittersRCV000712429 RCV002489211

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

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

Criteria Provided
Conflicting Classifications

CA9390387

rs_149598144

7 SubmittersRCV001127721 RCV001277293 RCV002060249 RCV003942697

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

SNV
Germline

Chr19:35849274

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9390652

rs_749341977

8 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

CA307828969

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
Single Submitter

CA405417105

rs_758432802

2 SubmittersRCV000668394 RCV001378745

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

SNV
Unknown

Chr19:35844460

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA405398211

rs_1555762381

1 SubmittersRCV000664936

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

SNV
Germline

Chr19:35841712

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA658824410

rs_1223946044

3 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

CA9390561

rs_570069789

6 SubmittersRCV000665105 RCV001584530 RCV001855435

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

SNV
Germline

Chr19:35849060

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9390599

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

CA9390359

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

CA9389711

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

CA9389908

rs_140673499

4 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

CA307787363

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
Single Submitter

CA405410394

rs_1555763974

2 SubmittersRCV000665767 RCV001379711

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

SNV
Germline

Chr19:35830843

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405415270

rs_1555758856

3 SubmittersRCV000668341

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

SNV
Unknown

Chr19:35831638

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA658824409

rs_1555759089

2 SubmittersRCV000673085

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

SNV
Unknown

Chr19:35831763

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA405417838

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

CA9389945

rs_762184939

6 SubmittersRCV000668878 RCV002531212

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

SNV
Germline

Chr19:35842124

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA405391027

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
not specified
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390314

rs_367976914

6 SubmittersRCV000671805 RCV000938880 RCV001125642 RCV001662739 RCV002294365

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

SNV
Germline

Chr19:35845668

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405399610

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

CA9390351

rs_147641617

5 SubmittersRCV000669765 RCV000992446

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

SNV
Unknown

Chr19:35848167

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA405404655

rs_1555763090

1 SubmittersRCV000673975

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

SNV
Unknown

Chr19:35851779

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405412543

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

CA9390760

rs_199646884

3 SubmittersRCV000681696 RCV001729682

NM_004646.4(NPHS1):c.1592G>T (p.Gly531Val)

SNV
Germline

Chr19:35846043

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA405400175

rs_1281962144

1 SubmittersRCV000681795

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

SNV
Germline

Chr19:35839521

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

CA405385884

rs_772979927

2 SubmittersRCV000735650

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

SNV
Germline

Chr19:35849304

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405407125

rs_1568456335

1 SubmittersRCV001856161

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

CA9390128

rs_140018064

4 SubmittersRCV000780551 RCV002535676

NM_004646.4(NPHS1):c.2506+5G>T

SNV
Germline

Chr19:35842374

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
Nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390120

rs_762704370

4 SubmittersRCV000785889 RCV001372765 RCV001849441

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

SNV
Germline

Chr19:35826642

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9389687

rs_35240811

6 SubmittersRCV000894151 RCV001124535 RCV001273380 RCV002294408

NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr)

SNV
Germline

Chr19:35830918

Conflicting classifications of pathogenicity

Condition: not provided
Congenital nephrotic syndrome
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9389725

rs_115489112

5 SubmittersRCV000880449 RCV001124537 RCV003967977

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

SNV
Germline

Chr19:35835741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9389910

rs_370387270

6 SubmittersRCV000889382 RCV001277279 RCV001127644 RCV002294402 RCV003910543 RCV002539384

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

SNV
Germline

Chr19:35845390

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9390301

rs_34761059

6 SubmittersRCV000894152 RCV001125639 RCV001275394 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

CA9390385

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
Focal segmental glomerulosclerosis
not specified

Criteria Provided
Conflicting Classifications

CA9390331

rs_187501631

7 SubmittersRCV000889131 RCV001127720 RCV001277288 RCV002294400 RCV002271594

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

CA9390509

rs_372069596

5 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

CA9390540

rs_114112112

6 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
not specified
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA9390651

rs_115308424

7 SubmittersRCV000898050 RCV001125719 RCV001796311 RCV001272296 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

CA9390947

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

CA9390908

rs_145683325

4 SubmittersRCV000912796 RCV001122046 RCV001272307

NM_004646.4(NPHS1):c.3649T>G (p.Tyr1217Asp)

SNV
Germline

Chr19:35826591

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9389677

rs_114879227

2 SubmittersRCV000941008 RCV005029538

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

CA9389944

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

CA9390607

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
Finnish congenital nephrotic syndrome
Congenital nephrotic syndrome
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9390795

rs_147569168

4 SubmittersRCV000944864 RCV001272302 RCV001127821 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

CA9389913

rs_190769116

4 SubmittersRCV000938233 RCV001277280 RCV002294417

NM_004646.4(NPHS1):c.3109+3G>T

SNV
Germline

Chr19:35839234

Conflicting classifications of pathogenicity

Condition: not provided
Kidney disorder
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9389928

rs_199888357

3 SubmittersRCV000935037 RCV002294416 RCV003933187

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

CA9390302

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

CA9390725

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

CA405417167

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

CA307782102

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

CA405407206

rs_1599845689

2 SubmittersRCV001004611 RCV003558637

NM_004646.4(NPHS1):c.3343G>T (p.Glu1115Ter)

SNV
Germline

Chr19:35831340

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405416679

rs_1972879158

1 SubmittersRCV001054547

NM_004646.4(NPHS1):c.3100A>G (p.Thr1034Ala)

SNV
Germline

Chr19:35839246

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9389931

rs_762614253

3 SubmittersRCV001055542 RCV001277281 RCV005453151

NM_004646.4(NPHS1):c.58+2T>C

SNV
Germline

Chr19:35851778

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405412535

rs_1973271240

1 SubmittersRCV001051369

NM_004646.4(NPHS1):c.3687C>T (p.Pro1229=)

SNV
Germline

Chr19:35826553

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9389669

rs_116744687

2 SubmittersRCV001123446 RCV001400184

NM_004646.4(NPHS1):c.3545C>T (p.Thr1182Met)

SNV
Germline

Chr19:35830893

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9389721

rs_143003940

3 SubmittersRCV001124536 RCV002070029 RCV003246708

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

CA9389797

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

CA9389850

rs_144203682

3 SubmittersRCV001125549 RCV002482245 RCV002556722

NM_004646.4(NPHS1):c.2905C>T (p.Leu969=)

SNV
Germline

Chr19:35839518

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9389987

rs_368639377

2 SubmittersRCV001127646 RCV002070085

NM_004646.4(NPHS1):c.1989G>A (p.Glu663=)

SNV
Germline

Chr19:35844401

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA307783468

rs_909573287

2 SubmittersRCV001124632 RCV002070031

NM_004646.4(NPHS1):c.1790C>A (p.Ala597Asp)

SNV
Germline

Chr19:35845508

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390320

rs_548304892

4 SubmittersRCV001127719 RCV002070086 RCV005029701

NM_004646.4(NPHS1):c.1378C>T (p.Arg460Trp)

SNV
Germline

Chr19:35848103

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9390450

rs_749319334

2 SubmittersRCV001123646 RCV002556671

NM_004646.4(NPHS1):c.407A>G (p.Lys136Arg)

SNV
Germline

Chr19:35851080

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9390807

rs_561948671

3 SubmittersRCV001127823 RCV002070486 RCV004032273

NM_004646.4(NPHS1):c.-140G>A

SNV
Germline

Chr19:35851977

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA307791464

rs_79692855

2 SubmittersRCV001125801 RCV001585993

NM_004646.4(NPHS1):c.2507-13C>T

SNV
Germline

Chr19:35842293

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9390098

rs_536518140

2 SubmittersRCV001123548 RCV002556669

NM_004646.4(NPHS1):c.2507-14C>T

SNV
Germline

Chr19:35842294

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9390099

rs_777015846

2 SubmittersRCV001123549 RCV003718343

NM_004646.4(NPHS1):c.2334+9C>A

SNV
Germline

Chr19:35843463

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA632776591

rs_756158801

3 SubmittersRCV001124628 RCV001422183 RCV003906234

NM_004646.4(NPHS1):c.1315+7C>T

SNV
Germline

Chr19:35848246

Conflicting classifications of pathogenicity

Congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9390480

rs_370645778

2 SubmittersRCV001123649 RCV001413132

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

CA9389747

rs_142883811

7 SubmittersRCV001192699 RCV001383054

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

SNV
Germline

Chr19:35842480

Conflicting classifications of pathogenicity

Nephrotic syndrome
Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9390141

rs_114203578

6 SubmittersRCV001195709 RCV003132258 RCV002560207

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

SNV
Unknown

Chr19:35839553

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405386175

rs_763902818

1 SubmittersRCV001197140

NM_004646.4(NPHS1):c.2324G>A (p.Trp775Ter)

SNV
Germline

Chr19:35843482

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405395854

rs_1973089176

1 SubmittersRCV001224578

NM_004646.4(NPHS1):c.3109+2T>G

SNV
Germline

Chr19:35839235

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA9389929

rs_765534006

1 SubmittersRCV001204918

NM_004646.4(NPHS1):c.1567C>T (p.Gln523Ter)

SNV
Germline

Chr19:35846068

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405400231

rs_1447842872

1 SubmittersRCV001227794

NM_004646.4(NPHS1):c.1156G>T (p.Glu386Ter)

SNV
Germline

Chr19:35848651

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405406186

rs_1973180778

1 SubmittersRCV001237095

NM_004646.4(NPHS1):c.646G>C (p.Val216Leu)

SNV
Germline

Chr19:35849616

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390710

rs_34673364

3 SubmittersRCV001241696 RCV001835110

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

SNV
Germline

Chr19:35848166

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA405404643

rs_1973171785

2 SubmittersRCV001828852 RCV001232127

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

CA405397437

rs_764181464

6 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

CA405411347

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

CA9390693

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

CA9390657

rs_34982899

3 SubmittersRCV001354183 RCV002471093

NM_004646.4(NPHS1):c.3387+2T>C

SNV
Germline

Chr19:35831294

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405416466

rs_2146807429

1 SubmittersRCV001379820

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

SNV
Germline

Chr19:35841802

Pathogenic/Likely pathogenic

Condition: not provided
Nephrotic syndrome
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA307781932

rs_143649022

5 SubmittersRCV001376867 RCV001849512 RCV002476714

NM_004646.4(NPHS1):c.2507-2A>G

SNV
Germline

Chr19:35842282

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405392348

rs_2146819530

1 SubmittersRCV001377900

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

CA405392460

rs_1973073001

3 SubmittersRCV001376877 RCV003469621

NM_004646.4(NPHS1):c.1097G>A (p.Ser366Asn)

SNV
Germline

Chr19:35848710

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405406424

rs_2146827117

1 SubmittersRCV001377594

NM_004646.4(NPHS1):c.1049C>A (p.Ser350Tyr)

SNV
Germline

Chr19:35848758

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405406527

rs_570069789

1 SubmittersRCV001377442

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

CA405407418

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

CA9390768

rs_771143648

2 SubmittersRCV001377151 RCV003405625

NM_004646.4(NPHS1):c.2686C>T (p.Gln896Ter)

SNV
Germline

Chr19:35841844

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405390513

rs_771594710

1 SubmittersRCV001386181

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

CA9390544

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

CA405392264

rs_2146819513

1 SubmittersRCV001391131

NM_004646.4(NPHS1):c.2826C>T (p.Asp942=)

SNV
Germline

Chr19:35839597

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA507314010

rs_748286841

2 SubmittersRCV001484086 RCV005023172

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

CA2333848378

rs_1973103431

3 SubmittersRCV001482020 RCV002501663

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

SNV
Germline

Chr19:35844249

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390241

rs_200253809

2 SubmittersRCV001502521 RCV005023178

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

SNV
Unknown

Chr19:35839494

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405385657

rs_1973023048

1 SubmittersRCV001535862

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

SNV
Germline

Chr19:35841769

Conflicting classifications of pathogenicity

Inborn genetic diseases
Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9390033

rs_370844834

3 SubmittersRCV003161130 RCV001578736 RCV002072279

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

CA507075837

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

CA405397666

rs_2146822164

1 SubmittersRCV001733619 RCV002508810

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

SNV
Germline

Chr19:35848047

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA405403530

rs_1242448684

2 SubmittersRCV001782538 RCV005095136

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

CA405385548

rs_2146816353

2 SubmittersRCV001795593

NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys)

SNV
Germline

Chr19:35842197

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9390085

rs_752712664

4 SubmittersRCV001807994 RCV001869578 RCV003331209

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

CA9390655

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

CA9390083

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

CA307788164

rs_919999972

2 SubmittersRCV001849647 RCV002250775

NM_004646.4(NPHS1):c.2014G>A (p.Ala672Thr)

SNV
Germline

Chr19:35844376

Likely pathogenic

Nephrotic syndrome

No Assertion Criteria Provided

CA405397911

rs_1352354716

1 SubmittersRCV001849788

NM_004646.4(NPHS1):c.2335-2A>G

SNV
Germline

Chr19:35842552

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405394148

rs_2146819931

1 SubmittersRCV001880631

NM_004646.4(NPHS1):c.275-1G>C

SNV
Germline

Chr19:35851385

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA307790752

rs_144118716

1 SubmittersRCV001970325

NM_004646.4(NPHS1):c.2132G>C (p.Arg711Pro)

SNV
Germline

Chr19:35844183

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405397435

rs_926025297

1 SubmittersRCV002039043

NM_004646.4(NPHS1):c.1121G>A (p.Trp374Ter)

SNV
Germline

Chr19:35848686

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405406359

rs_2146827068

1 SubmittersRCV001897712

NM_004646.4(NPHS1):c.2815+1G>C

SNV
Germline

Chr19:35841714

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405388939

rs_2146818902

1 SubmittersRCV001968989

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
NPHS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9390410

rs_373264146

5 SubmittersRCV001933203 RCV002284224 RCV002484498 RCV004752102 RCV005443465

NM_004646.4(NPHS1):c.2387G>A (p.Gly796Glu)

SNV
Germline

Chr19:35842498

Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405393664

rs_2146819844

2 SubmittersRCV001996537 RCV004594618

NM_004646.4(NPHS1):c.1867T>C (p.Cys623Arg)

SNV
Germline

Chr19:35845431

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405399091

rs_2146823273

1 SubmittersRCV001969540

NM_004646.4(NPHS1):c.1279G>T (p.Glu427Ter)

SNV
Germline

Chr19:35848289

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405405097

rs_2146826513

1 SubmittersRCV001888391

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

CA9390485

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

CA405412314

rs_1450477596

2 SubmittersRCV001891874 RCV003464200

NM_004646.4(NPHS1):c.938C>T (p.Ala313Val)

SNV
Germline

Chr19:35849050

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390598

rs_755752316

3 SubmittersRCV001987895 RCV004651864 RCV005025490

NM_004646.4(NPHS1):c.322G>T (p.Glu108Ter)

SNV
Germline

Chr19:35851337

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405410899

rs_2146831931

1 SubmittersRCV001921322

NM_004646.4(NPHS1):c.2416G>A (p.Ala806Thr)

SNV
Germline

Chr19:35842469

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405393371

rs_2146819794

1 SubmittersRCV002018828

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

CA9389830

rs_758432802

4 SubmittersRCV002009317 RCV002486667

NM_004646.4(NPHS1):c.479G>A (p.Cys160Tyr)

SNV
Germline

Chr19:35851008

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405409909

rs_386833944

1 SubmittersRCV001941923

NM_004646.4(NPHS1):c.3110-2A>G

SNV
Germline

Chr19:35835763

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405419280

rs_2146812253

1 SubmittersRCV002009388

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

CA9390788

rs_371515262

4 SubmittersRCV002025509 RCV003471227

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

SNV
Germline

Chr19:35851260

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405410442

rs_1054950770

1 SubmittersRCV002018437

NM_004646.4(NPHS1):c.450G>A (p.Trp150Ter)

SNV
Germline

Chr19:35851037

Pathogenic/Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405410077

rs_2146831207

2 SubmittersRCV001953582 RCV005025528

NM_004646.4(NPHS1):c.795C>A (p.Cys265Ter)

SNV
Germline

Chr19:35849281

Pathogenic/Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405407079

rs_779099247

2 SubmittersRCV001975249 RCV004816835

NM_004646.4(NPHS1):c.2083C>T (p.Arg695Trp)

SNV
Germline

Chr19:35844232

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405397607

rs_2146822039

1 SubmittersRCV002023795

NM_004646.4(NPHS1):c.608+1G>T

SNV
Germline

Chr19:35850363

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405408806

rs_2146829967

1 SubmittersRCV002024061

NM_004646.4(NPHS1):c.1441-1G>T

SNV
Germline

Chr19:35846195

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405401131

rs_2146824388

1 SubmittersRCV002038498

NM_004646.4(NPHS1):c.3249G>T (p.Gly1083=)

SNV
Germline

Chr19:35831680

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9389859

rs_779723501

2 SubmittersRCV002109386 RCV005025705

NM_004646.4(NPHS1):c.887C>T (p.Ala296Val)

SNV
Germline

Chr19:35849101

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9390608

rs_200621047

2 SubmittersRCV002188375 RCV003348813

NM_004646.4(NPHS1):c.1734G>A (p.Leu578=)

SNV
Germline

Chr19:35845692

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA507314213

rs_1973129633

2 SubmittersRCV002183546 RCV002294513

NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)

SNV
Germline

Chr19:35845385

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390299

rs_141141839

3 SubmittersRCV002283401 RCV003101624 RCV005025762

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

SNV
Germline

Chr19:35848114

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9390453

rs_146290709

3 SubmittersRCV002283822 RCV003101630 RCV004690282

NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)

SNV
Germline

Chr19:35842244

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis
Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390089

rs_148115230

3 SubmittersRCV002294646 RCV003097856 RCV004720361

NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)

SNV
Germline

Chr19:35842270

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis
Condition: not provided
NPHS1-related disorder

Criteria Provided
Conflicting Classifications

CA9390095

rs_141886345

3 SubmittersRCV002294647 RCV003097857 RCV003896114

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

CA405410510

rs_2513784716

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

CA405391694

rs_2513769124

1 SubmittersRCV002302520

NM_004646.4(NPHS1):c.3594+2T>C

SNV
Germline

Chr19:35830842

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405415266

rs_1972867616

1 SubmittersRCV006460115

NM_004646.4(NPHS1):c.1925T>C (p.Val642Ala)

SNV
Germline

Chr19:35845373

Likely pathogenic

Congenital and infantile nephrotic syndrome

No Assertion Criteria Provided

CA405398251

rs_2513773078

1 SubmittersRCV002306451

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

SNV
Unknown

Chr19:35831326

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405416593

rs_2513755521

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

CA405408405

rs_1347730847

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

CA405410805

rs_755089331

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

CA405411075

rs_1006352232

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

CA405412453

rs_2513786480

1 SubmittersRCV002307169

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

SNV
Germline

Chr19:35851544

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405411591

rs_2513785885

2 SubmittersRCV002310466

NM_004646.4(NPHS1):c.2931T>G (p.Tyr977Ter)

SNV
Unknown

Chr19:35839415

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405385538

rs_2146816347

1 SubmittersRCV002505930

NM_004646.4(NPHS1):c.2734G>A (p.Ala912Thr)

SNV
Germline

Chr19:35841796

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA307781909

rs_763162233

2 SubmittersRCV003064576 RCV005028144

NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)

SNV
Germline

Chr19:35846065

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA405400226

rs_2513774296

3 SubmittersRCV003064579 RCV003331420 RCV005608858

NM_004646.4(NPHS1):c.3722T>C (p.Val1241Ala)

SNV
Germline

Chr19:35826518

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9389661

rs_151121915

2 SubmittersRCV003052829 RCV005685105

NM_004646.4(NPHS1):c.736G>A (p.Glu246Lys)

SNV
Germline

Chr19:35849340

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9390672

rs_386833959

2 SubmittersRCV003062732 RCV004960945

NM_004646.4(NPHS1):c.1220G>A (p.Arg407Gln)

SNV
Germline

Chr19:35848348

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390500

rs_199735886

2 SubmittersRCV003076842 RCV005028172

NM_004646.4(NPHS1):c.713-10T>C

SNV
Germline

Chr19:35849373

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390680

rs_372079888

2 SubmittersRCV003056683 RCV005028152

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

SNV
Germline

Chr19:35831372

Pathogenic/Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405416857

rs_786204729

3 SubmittersRCV003065234 RCV003465942

NM_004646.4(NPHS1):c.796G>A (p.Val266Met)

SNV
Germline

Chr19:35849280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9390653

rs_755132744

3 SubmittersRCV003063551 RCV003906475 RCV005028176

NM_004646.4(NPHS1):c.133G>A (p.Glu45Lys)

SNV
Germline

Chr19:35851598

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9390904

rs_199932050

2 SubmittersRCV003077743 RCV004071756

NM_004646.4(NPHS1):c.2597G>A (p.Arg866Gln)

SNV
Germline

Chr19:35842190

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA307782190

rs_868576714

2 SubmittersRCV003084583 RCV005685133

NM_004646.4(NPHS1):c.2399G>A (p.Arg800His)

SNV
Germline

Chr19:35842486

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390143

rs_146400394

2 SubmittersRCV002598900 RCV005028242

NM_004646.4(NPHS1):c.991G>A (p.Gly331Ser)

SNV
Germline

Chr19:35848997

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390587

rs_755741122

2 SubmittersRCV002610110 RCV005028245

NM_004646.4(NPHS1):c.3367C>G (p.Arg1123Gly)

SNV
Germline

Chr19:35831316

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA9389794

rs_373931233

2 SubmittersRCV002603645

NM_004646.4(NPHS1):c.620G>A (p.Arg207Gln)

SNV
Germline

Chr19:35849642

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390716

rs_114428177

3 SubmittersRCV002644405 RCV004072082 RCV005028312

NM_004646.4(NPHS1):c.722G>A (p.Gly241Glu)

SNV
Germline

Chr19:35849354

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390677

rs_774808086

2 SubmittersRCV003104840 RCV005029899

NM_004646.4(NPHS1):c.3364G>T (p.Glu1122Ter)

SNV
Germline

Chr19:35831319

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405416555

rs_548792892

1 SubmittersRCV003116243

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

CA9390400

rs_138852882

3 SubmittersRCV002601230 RCV003464570

NM_004646.4(NPHS1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr19:35851836

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA307791385

rs_942323517

1 SubmittersRCV002681527

NM_004646.4(NPHS1):c.2443C>T (p.Gln815Ter)

SNV
Germline

Chr19:35842442

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405393110

rs_2513769477

1 SubmittersRCV002833761

NM_004646.4(NPHS1):c.1831C>T (p.Gln611Ter)

SNV
Germline

Chr19:35845467

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405399346

rs_2513773327

1 SubmittersRCV002829438

NM_004646.4(NPHS1):c.3259C>T (p.Gln1087Ter)

SNV
Germline

Chr19:35831670

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405417316

rs_1440975003

1 SubmittersRCV002838602

NM_004646.4(NPHS1):c.2386G>T (p.Gly796Ter)

SNV
Germline

Chr19:35842499

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405393677

rs_1462077116

1 SubmittersRCV002875677

NM_004646.4(NPHS1):c.928G>T (p.Asp310Tyr)

SNV
Germline

Chr19:35849060

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405406796

rs_763972372

1 SubmittersRCV002885067

NM_004646.4(NPHS1):c.1559C>A (p.Ser520Ter)

SNV
Germline

Chr19:35846076

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405400252

rs_2513774314

1 SubmittersRCV002908594

NM_004646.4(NPHS1):c.2667C>A (p.Tyr889Ter)

SNV
Germline

Chr19:35841863

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405390803

rs_1384985862

1 SubmittersRCV002867692

NM_004646.4(NPHS1):c.1914T>A (p.Tyr638Ter)

SNV
Germline

Chr19:35845384

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405398294

rs_2513773107

1 SubmittersRCV002885160

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

SNV
Germline

Chr19:35830884

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9389714

rs_555255264

3 SubmittersRCV002995211 RCV004546754 RCV006377786

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

SNV
Germline

Chr19:35839495

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405385661

rs_386833930

1 SubmittersRCV003021826

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

CA405406962

rs_2513778871

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

CA405406609

rs_1430436552

2 SubmittersRCV003032281 RCV003465903

NM_004646.4(NPHS1):c.274+2T>A

SNV
Germline

Chr19:35851455

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405411236

rs_2513785558

1 SubmittersRCV003038287

NM_004646.4(NPHS1):c.314A>C (p.Asp105Ala)

SNV
Germline

Chr19:35851345

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405410950

rs_2513785055

1 SubmittersRCV003040380

NM_004646.4(NPHS1):c.2353C>T (p.Gln785Ter)

SNV
Germline

Chr19:35842532

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405393945

rs_781299519

1 SubmittersRCV003030179

NM_004646.4(NPHS1):c.3481+2T>C

SNV
Germline

Chr19:35831051

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405415628

rs_2513754818

1 SubmittersRCV003044165

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

SNV
Germline

Chr19:35848252

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405404745

rs_2513776700

2 SubmittersRCV003123446

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

SNV
Germline

Chr19:35844451

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405398185

rs_1568454093

2 SubmittersRCV003155825

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

SNV
Germline

Chr19:35848987

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405406637

rs_1235916533

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

CA307783285

rs_926025297

3 SubmittersRCV003331616

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

SNV
Unknown

Chr19:35844369

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405397879

rs_2513771917

1 SubmittersRCV003412538

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

SNV
Unknown

Chr19:35839524

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405385908

rs_1973023933

1 SubmittersRCV003412540

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

SNV
Unknown

Chr19:35830958

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405415611

rs_2513754603

1 SubmittersRCV003471550

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

SNV
Unknown

Chr19:35849235

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405406988

rs_1374214589

1 SubmittersRCV003463188

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

SNV
Unknown

Chr19:35845367

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405398235

rs_2513773063

1 SubmittersRCV003471551

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

SNV
Germline

Chr19:35849646

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9390718

rs_201822740

6 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

CA405416620

rs_1438328274

1 SubmittersRCV003471559

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

SNV
Germline

Chr19:35839336

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA405385129

rs_2513765764

2 SubmittersRCV003471560 RCV005100197

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

SNV
Germline

Chr19:35831696

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9389867

rs_775829291

2 SubmittersRCV003463193

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

SNV
Unknown

Chr19:35850447

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405409571

rs_2513782308

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

CA405399307

rs_2513773320

1 SubmittersRCV003471563

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

SNV
Unknown

Chr19:35841730

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405389122

rs_2513768306

1 SubmittersRCV003471569

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

SNV
Unknown

Chr19:35848795

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405406603

rs_1057517413

1 SubmittersRCV003471570

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

SNV
Germline

Chr19:35839541

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405386057

rs_1202202990

2 SubmittersRCV003471571

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

SNV
Germline

Chr19:35851090

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405410384

rs_386833942

2 SubmittersRCV003463197

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

SNV
Unknown

Chr19:35839583

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405386452

rs_2513766220

1 SubmittersRCV003463198

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

SNV
Unknown

Chr19:35839610

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA2695198177

rs_746769666

1 SubmittersRCV003471574

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

SNV
Germline

Chr19:35844108

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405397151

rs_1973100441

3 SubmittersRCV003471577

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

SNV
Unknown

Chr19:35835753

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405419242

rs_1972948538

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

CA9390825

rs_756244380

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

CA405412504

rs_2513786564

1 SubmittersRCV003471582

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

SNV
Germline

Chr19:35849149

Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA405406981

rs_2513778898

2 SubmittersRCV003476578 RCV005100198

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

SNV
Germline

Chr19:35845363

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA307783853

rs_1017855149

3 SubmittersRCV003476580

NM_004646.4(NPHS1):c.1124G>A (p.Trp375Ter)

SNV
Germline

Chr19:35848683

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405406340

rs_2513777815

1 SubmittersRCV003544363

NM_004646.4(NPHS1):c.2784G>A (p.Ser928=)

SNV
Germline

Chr19:35841746

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390029

rs_200265333

2 SubmittersRCV003545137 RCV005030076

NM_004646.4(NPHS1):c.1440+1G>A

SNV
Germline

Chr19:35848040

Pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405403477

rs_766278192

2 SubmittersRCV003560106 RCV005030119

NM_004646.4(NPHS1):c.275-14G>A

SNV
Germline

Chr19:35851398

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA9390862

rs_377446423

2 SubmittersRCV003555796 RCV005014789

NM_004646.4(NPHS1):c.712+1G>A

SNV
Germline

Chr19:35849549

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405407901

rs_2513779821

1 SubmittersRCV003568856

NM_004646.4(NPHS1):c.104G>A (p.Trp35Ter)

SNV
Germline

Chr19:35851627

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405412320

rs_2513786285

1 SubmittersRCV003665246

NM_004646.4(NPHS1):c.951C>A (p.Cys317Ter)

SNV
Germline

Chr19:35849037

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405406746

rs_759559801

1 SubmittersRCV003661180

NM_004646.4(NPHS1):c.2816-2A>G

SNV
Germline

Chr19:35839609

Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405386704

rs_2513766258

2 SubmittersRCV003682156 RCV005609028

NM_004646.4(NPHS1):c.287T>A (p.Leu96Gln)

SNV
Germline

Chr19:35851372

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405411125

rs_2513785174

1 SubmittersRCV003685149

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

SNV
Germline

Chr19:35839495

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405385672

rs_386833930

1 SubmittersRCV003687899

NM_004646.4(NPHS1):c.2507-11T>A

SNV
Germline

Chr19:35842291

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA995499256

rs_1973070541

2 SubmittersRCV003820368 RCV005014994

NM_004646.4(NPHS1):c.447C>G (p.Thr149=)

SNV
Germline

Chr19:35851040

Conflicting classifications of pathogenicity

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA307790260

rs_1000712587

2 SubmittersRCV003839897 RCV005030311

NM_004646.4(NPHS1):c.713-1G>A

SNV
Germline

Chr19:35849364

Pathogenic/Likely pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405407410

rs_2513779373

2 SubmittersRCV003854992 RCV005030331

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

SNV
Germline

Chr19:35839494

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA405385651

rs_1973023048

1 SubmittersRCV003852599

NM_004646.4(NPHS1):c.1437C>G (p.Tyr479Ter)

SNV
Germline

Chr19:35848044

Pathogenic

Condition: not provided
Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

CA405403504

rs_1973169054

2 SubmittersRCV003876246 RCV005610650

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

SNV
Unknown

Chr19:35831373

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_1290982641

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

rs_769092288

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

rs_1462077116

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

rs_2513769229

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

rs_2513768382

1 SubmittersRCV004574379

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

SNV
Unknown

Chr19:35843470

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_1306056914

1 SubmittersRCV004574382

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

SNV
Germline

Chr19:35841793

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_758406223

2 SubmittersRCV004574383 RCV005059556

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

SNV
Unknown

Chr19:35831295

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_2513755430

1 SubmittersRCV004574386

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

SNV
Unknown

Chr19:35846007

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_2513774191

1 SubmittersRCV004574388

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

SNV
Germline

Chr19:35845719

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

rs_386833888

1 SubmittersRCV004594767

NM_004646.4(NPHS1):c.2343T>A (p.Asp781Glu)

SNV
Germline

Chr19:35842542

Conflicting classifications of pathogenicity

Inborn genetic diseases
Finnish congenital nephrotic syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004644092 RCV005015221

NM_004646.4(NPHS1):c.1255G>A (p.Ala419Thr)

SNV
Germline

Chr19:35848313

Likely pathogenic

NPHS1-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004731775

NM_004646.4(NPHS1):c.397+3A>G

SNV
Germline

Chr19:35851259

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004787552

NM_004646.4(NPHS1):c.1250G>A (p.Cys417Tyr)

SNV
Germline

Chr19:35848318

Likely pathogenic

Nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004799074

NM_004646.4(NPHS1):c.3258G>A (p.Trp1086Ter)

SNV
Germline

Chr19:35831671

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005028493

NM_004646.4(NPHS1):c.2664-2A>G

SNV
Germline

Chr19:35841868

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005028502

NM_004646.4(NPHS1):c.2655A>G (p.Gln885=)

SNV
Germline

Chr19:35842132

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005028504 RCV006617379

NM_004646.4(NPHS1):c.2347G>T (p.Glu783Ter)

SNV
Germline

Chr19:35842538

Pathogenic/Likely pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005022965 RCV005063220

NM_004646.4(NPHS1):c.2134G>T (p.Ala712Ser)

SNV
Germline

Chr19:35844181

Conflicting classifications of pathogenicity

Finnish congenital nephrotic syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005022969 RCV006373434

NM_004646.4(NPHS1):c.1628-2A>G

SNV
Germline

Chr19:35845800

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005028522

NM_004646.4(NPHS1):c.1628-10C>A

SNV
Germline

Chr19:35845808

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005028523

NM_004646.4(NPHS1):c.925G>T (p.Glu309Ter)

SNV
Germline

Chr19:35849063

Pathogenic

Finnish congenital nephrotic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005028544 RCV005063221

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

SNV
Germline

Chr19:35850956

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005028555

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

SNV
Germline

Chr19:35851261

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005028558

NM_004646.4(NPHS1):c.3G>T (p.Met1Ile)

SNV
Germline

Chr19:35851835

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005022980

NM_004646.4(NPHS1):c.3482-1G>A

SNV
Germline

Chr19:35830957

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005088518

NM_004646.4(NPHS1):c.741G>A (p.Trp247Ter)

SNV
Germline

Chr19:35849335

Pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005088519

NM_004646.4(NPHS1):c.3166+2C>G

SNV
Germline

Chr19:35835703

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005148156

NM_004646.4(NPHS1):c.2212+2T>C

SNV
Germline

Chr19:35844101

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005407528

NM_004646.4(NPHS1):c.2836G>T (p.Gly946Ter)

SNV
Germline

Chr19:35839587

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

1 SubmittersRCV005609327

NM_004646.4(NPHS1):c.275-1G>A

SNV
Germline

Chr19:35851385

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

1 SubmittersRCV005609329

NM_004646.4(NPHS1):c.2928-1G>C

SNV
Germline

Chr19:35839419

Likely pathogenic

Finnish congenital nephrotic syndrome

No Assertion Criteria Provided

1 SubmittersRCV005609362

NM_004646.4(NPHS1):c.1171-1G>C

SNV
Unknown

Chr19:35848398

Likely pathogenic

Finnish congenital nephrotic syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005637762