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Links from MedGen

Items: 1 to 100 of 155

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:179544864-179544865
GRCh38:
Chr1:179575729-179575730
NPHS2S46fsNephrotic syndrome, type 2Likely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr1:179521804
GRCh38:
Chr1:179552669
NPHS2, AXDND1R201S, R269SNephrotic syndrome, type 2Uncertain significance
(Mar 8, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr1:179530462-179530465
GRCh38:
Chr1:179561327-179561330
NPHS2F137fsNephrotic syndrome, type 2Likely pathogenic
(Jan 2, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr1:179528821-179528823
GRCh38:
Chr1:179559686-179559688
NPHS2F176fsNephrotic syndrome, type 2Likely pathogenic
(Dec 31, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr1:179544756
GRCh38:
Chr1:179575621
NPHS2A82fsNephrotic syndrome, type 2Likely pathogenic
(May 4, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr1:179526264-179526265
GRCh38:
Chr1:179557129-179557130
NPHS2K212fsNephrotic syndrome, type 2Likely pathogenic
(Dec 3, 2021)		criteria provided, single submitter
7.
GRCh37:
Chr1:179523621
GRCh38:
Chr1:179554486
AXDND1, NPHS2R194*, R262*Nephrotic syndrome, type 2Likely pathogenic
(Feb 25, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr1:179530482
GRCh38:
Chr1:179561347
NPHS2Y131*Nephrotic syndrome, type 2Likely pathogenic
(Feb 25, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr1:179528819-179528820
GRCh38:
Chr1:179559684-179559685
NPHS2F176fsNephrotic syndrome, type 2Likely pathogenic
(Feb 25, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr1:179533851
GRCh38:
Chr1:179564716
NPHS2P118SNephrotic syndrome, type 2Uncertain significance
(May 22, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr1:179528801
GRCh38:
Chr1:179559666
NPHS2not provided, Nephrotic syndrome, type 2Likely benign
(Sep 10, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:179520532
GRCh38:
Chr1:179551397
AXDND1, NPHS2E242K, E310KIdiopathic nephrotic syndrome, Nephrotic syndrome, type 2, not provided
Likely pathogenic
(Mar 10, 2023)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:179528842
GRCh38:
Chr1:179559707
NPHS2L169PIdiopathic nephrotic syndrome, not provided, Nephrotic syndrome, type 2
Pathogenic
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:179528809
GRCh38:
Chr1:179559674
NPHS2Nephrotic syndrome, type 2, not providedUncertain significance
(Oct 1, 2021)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:179530478
GRCh38:
Chr1:179561343
NPHS2R133fsNephrotic syndrome, type 2, not providedPathogenic
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:179544999
GRCh38:
Chr1:179575864
NPHS2M1LNephrotic syndrome, type 2Pathogenic
(May 22, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr1:179528942
GRCh38:
Chr1:179559807
NPHS2not provided, Nephrotic syndrome, type 2Benign
(Jul 8, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:179528917
GRCh38:
Chr1:179559782
NPHS2not provided, Nephrotic syndrome, type 2Benign
(Jul 8, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:179545115
GRCh38:
Chr1:179575980
NPHS2not provided, Nephrotic syndrome, type 2Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:179533927
GRCh38:
Chr1:179564792
NPHS2not provided, Nephrotic syndrome, type 2Likely benign
(Jul 23, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:179544862
GRCh38:
Chr1:179575727
NPHS2Nephrotic syndrome, type 2, not providedLikely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:179544862
GRCh38:
Chr1:179575727
NPHS2Nephrotic syndrome, type 2, not providedConflicting interpretations of pathogenicity
(Feb 2, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr1:179526353
GRCh38:
Chr1:179557218
NPHS2D183YNephrotic syndrome, type 2Uncertain significancecriteria provided, single submitter
24.
GRCh37:
Chr1:179520428
GRCh38:
Chr1:179551293
AXDND1, NPHS2F276fs, F344fsnot provided, Nephrotic syndrome, type 2Pathogenic/Likely pathogenic
(Aug 28, 2023)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:179528896
GRCh38:
Chr1:179559761
NPHS2Nephrotic syndrome, type 2, not providedPathogenic/Likely pathogenic
(Feb 24, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:179526339
GRCh38:
Chr1:179557204
NPHS2M187Inot provided, not specified, Nephrotic syndrome, type 2
Conflicting interpretations of pathogenicity
(Feb 17, 2023)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr1:179520537
GRCh38:
Chr1:179551402
AXDND1, NPHS2A240V, A308VNephrotic syndrome, type 2Likely pathogenic
(Feb 2, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr1:179520505-179520507
GRCh38:
Chr1:179551370-179551372
AXDND1, NPHS2A250del, A318delNephrotic syndrome, type 2Likely pathogenic
(Feb 1, 2020)		criteria provided, single submitter
29.
GRCh37:
Chr1:179530439
GRCh38:
Chr1:179561304
NPHS2R146fsnot provided, Nephrotic syndrome, type 2Pathogenic
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:179526161
GRCh38:
Chr1:179557026
NPHS2not provided, Nephrotic syndrome, type 2Pathogenic/Likely pathogenic
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:179530456
GRCh38:
Chr1:179561321
NPHS2G140fsNephrotic syndrome, type 2, not providedPathogenic
(Dec 7, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:179544741
GRCh38:
Chr1:179575606
NPHS2E87*Nephrotic syndrome, type 2Pathogenic
(Oct 16, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr1:179523640
GRCh38:
Chr1:179554505
AXDND1, NPHS2Nephrotic syndrome, type 2, not providedConflicting interpretations of pathogenicity
(Mar 7, 2021)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr1:179521727
GRCh38:
Chr1:179552592
AXDND1, NPHS2Nephrotic syndrome, type 2, not providedConflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr1:179520585
GRCh38:
Chr1:179551450
AXDND1, NPHS2M224T, M292TNephrotic syndrome, type 2Uncertain significance
(Mar 16, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr1:179544983
GRCh38:
Chr1:179575848
NPHS2R6Qnot provided, Nephrotic syndrome, type 2Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:179520182
GRCh38:
Chr1:179551047
AXDND1, NPHS2Nephrotic syndrome, type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr1:179520181
GRCh38:
Chr1:179551046
AXDND1, NPHS2Nephrotic syndrome, type 2Uncertain significance
(Feb 2, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr1:179520109
GRCh38:
Chr1:179550974
AXDND1, NPHS2Nephrotic syndrome, type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr1:179544880
GRCh38:
Chr1:179575745
NPHS2not provided, Nephrotic syndrome, type 2Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr1:179544780
GRCh38:
Chr1:179575645
NPHS2G74Snot provided, Nephrotic syndrome, type 2Uncertain significance
(May 27, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:179530409
GRCh38:
Chr1:179561274
NPHS2Nephrotic syndrome, type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr1:179519886
GRCh38:
Chr1:179550751
AXDND1, NPHS2Nephrotic syndrome, type 2Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
44.
GRCh37:
Chr1:179530496
GRCh38:
Chr1:179561361
NPHS2V127INephrotic syndrome, type 2Likely pathogenic
(Apr 26, 2019)		criteria provided, single submitter
45.
GRCh37:
Chr1:179526323-179526324
GRCh38:
Chr1:179557188-179557189
NPHS2I192fsNephrotic syndrome, type 2Pathogenic
(May 8, 2019)		criteria provided, single submitter
46.
GRCh37:
Chr1:179520479
GRCh38:
Chr1:179551344
AXDND1, NPHS2Q260fs, Q328fsNephrotic syndrome, type 2Pathogenic
(May 28, 2019)		criteria provided, single submitter
47.
GRCh37:
Chr1:179520575
GRCh38:
Chr1:179551440
AXDND1, NPHS2Nephrotic syndrome, type 2, not providedLikely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:179526290
GRCh38:
Chr1:179557155
NPHS2Nephrotic syndrome, type 2, not providedConflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr1:179544856
GRCh38:
Chr1:179575721
NPHS2not provided, Nephrotic syndrome, type 2Likely benign
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:179526177
GRCh38:
Chr1:179557042
NPHS2not provided, Nephrotic syndrome, type 2Likely benign
(Sep 14, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:179520531
GRCh38:
Chr1:179551396
NPHS2, AXDND1E310V, E242VNephrotic syndrome, type 2Pathogenic
(Nov 21, 2018)		no assertion criteria provided
52.
GRCh37:
Chr1:179521787-179521788
GRCh38:
Chr1:179552652-179552653
AXDND1, NPHS2Q275fs, Q207fsNephrotic syndrome, type 2Pathogenic
(Jan 17, 2019)		no assertion criteria provided
53.
GRCh37:
Chr1:179544833
GRCh38:
Chr1:179575698
NPHS2E56fsNephrotic syndrome, type 2Likely pathogenic
(May 17, 2018)		no assertion criteria provided
54.
GRCh37:
Chr1:179528869
GRCh38:
Chr1:179559734
NPHS2D160VNephrotic syndrome, type 2Likely pathogenic
(May 17, 2018)		no assertion criteria provided
55.
GRCh37:
Chr1:179526191
GRCh38:
Chr1:179557056
NPHS2E237Qnot provided, Nephrotic syndrome, type 2, Focal segmental glomerulosclerosis,
not specified		Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr1:179530428
GRCh38:
Chr1:179561293
NPHS2not specified, not provided, Nephrotic syndrome, type 2
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr1:179520396
GRCh38:
Chr1:179551261
AXDND1, NPHS2N355S, N287Snot provided, Nephrotic syndrome, type 2Uncertain significance
(May 6, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:179521760
GRCh38:
Chr1:179552625
AXDND1, NPHS2A284V, A216Vnot provided, Nephrotic syndrome, type 2, Idiopathic nephrotic syndrome
Pathogenic/Likely pathogenic
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:179520326-179520331
GRCh38:
Chr1:179551191-179551196
AXDND1, NPHS2Nephrotic syndrome, type 2Uncertain significance
(May 25, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr1:179520437-179520448
GRCh38:
Chr1:179551302-179551313
AXDND1, NPHS2Nephrotic syndrome, type 2Uncertain significance
(May 2, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr1:179533930
GRCh38:
Chr1:179564795
NPHS2Nephrotic syndrome, type 2Likely pathogenic
(Apr 11, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr1:179533831
GRCh38:
Chr1:179564696
NPHS2C124WNephrotic syndrome, type 2Uncertain significance
(Apr 11, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr1:179544751
GRCh38:
Chr1:179575616
NPHS2L84fsNephrotic syndrome, type 2Likely pathogenic
(Apr 2, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr1:179544833-179544834
GRCh38:
Chr1:179575698-179575699
NPHS2E56fsNephrotic syndrome, type 2Likely pathogenic
(Mar 21, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr1:179528880-179528881
GRCh38:
Chr1:179559745-179559746
NPHS2L156fsNephrotic syndrome, type 2, not providedConflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr1:179530401-179530402
GRCh38:
Chr1:179561266-179561267
NPHS2Nephrotic syndrome, type 2Likely benign
(Feb 16, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr1:179526186
GRCh38:
Chr1:179557051
NPHS2R238Snot provided, Focal segmental glomerulosclerosis, Nephrotic syndrome, type 2
Pathogenic/Likely pathogenic
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:179520481
GRCh38:
Chr1:179551346
AXDND1, NPHS2L327F, L259Fnot provided, Nephrotic syndrome, type 2Conflicting interpretations of pathogenicity
(Mar 19, 2021)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr1:179521749
GRCh38:
Chr1:179552614
AXDND1, NPHS2A288T, A220TNephrotic syndrome, type 2, not providedConflicting interpretations of pathogenicity
(May 16, 2022)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr1:179526205
GRCh38:
Chr1:179557070
NPHS2T232INephrotic syndrome, type 2Uncertain significance
(Mar 5, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:179521739
GRCh38:
Chr1:179552604
AXDND1, NPHS2R291Q, R223Qnot specified, Nephrotic syndrome, type 2Uncertain significance
(Jan 31, 2023)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:179544912
GRCh38:
Chr1:179575777
NPHS2E30KNephrotic syndrome, type 2Uncertain significance
(Jan 2, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr1:179520495
GRCh38:
Chr1:179551360
NPHS2, AXDND1R322Q, R254QNephrotic syndrome, type 2Uncertain significance
(May 8, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:179526229
GRCh38:
Chr1:179557094
NPHS2R224HNephrotic syndrome, type 2Uncertain significance
(May 8, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:179544804-179544806
GRCh38:
Chr1:179575669-179575671
NPHS2V65delNephrotic syndrome, type 2Uncertain significance
(Dec 24, 2017)		criteria provided, single submitter
76.
GRCh37:
Chr1:179544834
GRCh38:
Chr1:179575699
NPHS2E56*Nephrotic syndrome, type 2Likely pathogenic
(Dec 5, 2017)		criteria provided, single submitter
77.
GRCh37:
Chr1:179521737
GRCh38:
Chr1:179552602
AXDND1, NPHS2Nephrotic syndrome, type 2Likely pathogenic
(Dec 5, 2017)		criteria provided, single submitter
78.
GRCh37:
Chr1:179530490
GRCh38:
Chr1:179561355
NPHS2Q129*Nephrotic syndrome, type 2Pathogenic
(Nov 12, 2017)		criteria provided, single submitter
79.
GRCh37:
Chr1:179526269
GRCh38:
Chr1:179557134
NPHS2S211TNephrotic syndrome, type 2Uncertain significance
(Sep 26, 2017)		criteria provided, single submitter
80.
GRCh37:
Chr1:179526160
GRCh38:
Chr1:179557025
NPHS2not provided, Nephrotic syndrome, type 2Pathogenic/Likely pathogenic
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr1:179528825
GRCh38:
Chr1:179559690
NPHS2P175SNephrotic syndrome, type 2Uncertain significance
(Aug 22, 2017)		criteria provided, single submitter
82.
GRCh37:
Chr1:179544915
GRCh38:
Chr1:179575780
NPHS2A29TNephrotic syndrome, type 2Uncertain significance
(Dec 30, 2021)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:179533824
GRCh38:
Chr1:179564689
NPHS2not provided, Nephrotic syndrome, type 2Pathogenic
(Sep 3, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr1:179520587
GRCh38:
Chr1:179551452
AXDND1, NPHS2not provided, Nephrotic syndrome, type 2Pathogenic/Likely pathogenic
(Mar 8, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:179521736
GRCh38:
Chr1:179552601
AXDND1, NPHS2not provided, Nephrotic syndrome, type 2Pathogenic/Likely pathogenic
(Aug 13, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:179520588
GRCh38:
Chr1:179551453
AXDND1, NPHS2not provided, Nephrotic syndrome, type 2Pathogenic/Likely pathogenic
(Oct 23, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:179544988-179544990
GRCh38:
Chr1:179575853-179575855
NPHS2R4delNephrotic syndrome, type 2Uncertain significance
(Jun 23, 2017)		criteria provided, single submitter
88.
GRCh37:
Chr1:179520526
GRCh38:
Chr1:179551391
NPHS2, AXDND1L312V, L244VNephrotic syndrome, type 2Uncertain significance
(May 10, 2017)		criteria provided, single submitter
89.
GRCh37:
Chr1:179544931-179544933
GRCh38:
Chr1:179575796-179575798
NPHS2E23delNephrotic syndrome, type 2Uncertain significance
(May 8, 2017)		criteria provided, single submitter
90.
GRCh37:
Chr1:179523635
GRCh38:
Chr1:179554500
NPHS2, AXDND1G257E, G189ENephrotic syndrome, type 2Uncertain significance
(Apr 10, 2017)		criteria provided, single submitter
91.
GRCh37:
Chr1:179544898
GRCh38:
Chr1:179575763
NPHS2R36fsNephrotic syndrome, type 2Likely pathogenic
(Mar 10, 2017)		criteria provided, single submitter
92.
GRCh37:
Chr1:179544876
GRCh38:
Chr1:179575741
NPHS2G42RNephrotic syndrome, type 2, not providedBenign/Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:179521828
GRCh38:
Chr1:179552693
AXDND1, NPHS2Nephrotic syndrome, type 2Uncertain significance
(Dec 27, 2016)		criteria provided, single submitter
94.
GRCh37:
Chr1:179526278
GRCh38:
Chr1:179557143
NPHS2A208TNephrotic syndrome, type 2, not specified, not provided
Uncertain significance
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:179544789
GRCh38:
Chr1:179575654
NPHS2R71*Nephrotic syndrome, type 2Pathogenic
(Jul 8, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:179526366
GRCh38:
Chr1:179557231
NPHS2Idiopathic nephrotic syndrome, Familial idiopathic steroid-resistant nephrotic syndrome, Nephrotic syndrome, type 2
Pathogenic/Likely pathogenic
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:179544844
GRCh38:
Chr1:179575709
NPHS2T53fsNephrotic syndrome, type 2, not providedPathogenic/Likely pathogenic
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:179523615
GRCh38:
Chr1:179554480
AXDND1, NPHS2E264Q, E196Qnot provided, not specified, Nephrotic syndrome, type 2
Conflicting interpretations of pathogenicity
(Oct 22, 2022)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr1:179523626
GRCh38:
Chr1:179554491
AXDND1, NPHS2V260E, V192Enot provided, Nephrotic syndrome, type 2Conflicting interpretations of pathogenicity
(Sep 29, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr1:179544895-179544896
GRCh38:
Chr1:179575760-179575761
NPHS2R36fsnot provided, Nephrotic syndrome, type 2Pathogenic
(Sep 12, 2021)		criteria provided, multiple submitters, no conflicts
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