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Items: 1 to 100 of 139

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantPathogenic
(Dec 1, 2001)
no assertion criteria provided
2.
GRCh37:
Chr1:179519880
GRCh38:
Chr1:179550745
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, Steroid-resistant nephrotic syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:179519968
GRCh38:
Chr1:179550833
NPHS2, AXDND1Steroid-resistant nephrotic syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:179520050
GRCh38:
Chr1:179550915
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, Steroid-resistant nephrotic syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:179520099
GRCh38:
Chr1:179550964
NPHS2, AXDND1Steroid-resistant nephrotic syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:179520108
GRCh38:
Chr1:179550973
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, Steroid-resistant nephrotic syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:179520135
GRCh38:
Chr1:179551000
NPHS2, AXDND1Steroid-resistant nephrotic syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:179520151
GRCh38:
Chr1:179551016
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, Steroid-resistant nephrotic syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:179520254
GRCh38:
Chr1:179551119
NPHS2, AXDND1Steroid-resistant nephrotic syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:179520325-179520331
GRCh38:
Chr1:179551191-179551196
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(May 25, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr1:179520396
GRCh38:
Chr1:179551261
NPHS2, AXDND1not providedUncertain significance
(Nov 20, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr1:179520398
GRCh38:
Chr1:179551263
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(May 25, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:179520422
GRCh38:
Chr1:179551287
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, not specified, Steroid-resistant nephrotic syndrome
Benign/Likely benign
(Apr 29, 2017)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:179520436-179520448
GRCh38:
Chr1:179551302-179551313
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(May 2, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr1:179520481
GRCh38:
Chr1:179551346
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Jan 25, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr1:179520495
GRCh38:
Chr1:179551360
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Dec 28, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr1:179520496
GRCh38:
Chr1:179551361
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Nov 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr1:179520506
GRCh38:
Chr1:179551371
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, not specified, not provided,
Steroid-resistant nephrotic syndrome
Benign/Likely benign
(Jul 5, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:179520509
GRCh38:
Chr1:179551374
NPHS2, AXDND1not providedLikely pathogenic
(Feb 15, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr1:179520512
GRCh38:
Chr1:179551377
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, not providedPathogenic/Likely pathogenic
(Nov 1, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:179520526
GRCh38:
Chr1:179551391
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(May 10, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr1:179520570
GRCh38:
Chr1:179551435
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Apr 22, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:179520587
GRCh38:
Chr1:179551452
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Jul 31, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr1:179520588
GRCh38:
Chr1:179551453
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Jul 31, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr1:179520596-179520597
GRCh38:
Chr1:179551461-179551462
NPHS2, AXDND1Steroid-resistant nephrotic syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr1:179520599
GRCh38:
Chr1:179551464
NPHS2, AXDND1Steroid-resistant nephrotic syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr1:179521731
GRCh38:
Chr1:179552596
NPHS2, AXDND1not specifiedBenigncriteria provided, single submitter
28.
GRCh37:
Chr1:179521736
GRCh38:
Chr1:179552601
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Jul 14, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr1:179521737
GRCh38:
Chr1:179552602
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Dec 5, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr1:179521739
GRCh38:
Chr1:179552604
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Jan 2, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr1:179521740
GRCh38:
Chr1:179552605
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, not providedLikely pathogenic
(May 5, 2014)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:179521743
GRCh38:
Chr1:179552608
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, Nephrotic syndrome, type 2, susceptibility to, not provided,
Idiopathic nephrotic syndrome
Pathogenic/Likely pathogenic, risk factor
(Sep 16, 2018)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:179521749
GRCh38:
Chr1:179552614
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Jan 23, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr1:179521752
GRCh38:
Chr1:179552617
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Aug 24, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr1:179521755-179521756
GRCh38:
Chr1:179552620-179552621
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Jun 8, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr1:179521759
GRCh38:
Chr1:179552624
NPHS2, AXDND1not providedLikely benign
(Mar 20, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr1:179521760
GRCh38:
Chr1:179552625
NPHS2, AXDND1not providedPathogenic
(Dec 31, 2014)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:179521794
GRCh38:
Chr1:179552659
NPHS2, AXDND1ProteinuriaUncertain significance
(Jul 23, 2014)
no assertion criteria provided
39.
GRCh37:
Chr1:179521799
GRCh38:
Chr1:179552664
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantPathogenic
(Jan 1, 2016)
no assertion criteria provided
40.
GRCh37:
Chr1:179521817
GRCh38:
Chr1:179552682
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Feb 26, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:179521828
GRCh38:
Chr1:179552693
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Dec 27, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr1:179523615
GRCh38:
Chr1:179554480
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistant, not providedConflicting interpretations of pathogenicity
(May 10, 2018)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr1:179523626
GRCh38:
Chr1:179554491
NPHS2, AXDND1not provided, Idiopathic nephrotic syndromePathogenic
(Feb 10, 2017)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:179523635
GRCh38:
Chr1:179554500
NPHS2, AXDND1Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Apr 10, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr1:179526160
GRCh38:
Chr1:179557025
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Aug 29, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr1:179526175
GRCh38:
Chr1:179557040
NPHS2not specified, not providedBenign
(Jun 19, 2018)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:179526176
GRCh38:
Chr1:179557041
NPHS2not specified, Steroid-resistant nephrotic syndromeUncertain significance
(Jul 22, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:179526186
GRCh38:
Chr1:179557051
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Feb 6, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr1:179526205
GRCh38:
Chr1:179557070
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Jan 5, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr1:179526214
GRCh38:
Chr1:179557079
NPHS2Nephrotic syndrome, idiopathic, steroid-resistant, Nephrotic syndrome, type 2, susceptibility to, not provided,
Proteinuria
Conflicting interpretations of pathogenicity, risk factor
(Sep 16, 2018)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr1:179526215
GRCh38:
Chr1:179557080
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Jan 18, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:179526229
GRCh38:
Chr1:179557094
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Dec 28, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr1:179526248
GRCh38:
Chr1:179557113
NPHS2Steroid-resistant nephrotic syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr1:179526257
GRCh38:
Chr1:179557122
NPHS2Nephrotic syndrome, idiopathic, steroid-resistant, not providedPathogenic/Likely pathogenic
(Oct 19, 2017)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:179526269
GRCh38:
Chr1:179557134
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Sep 26, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr1:179526278
GRCh38:
Chr1:179557143
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Feb 16, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr1:179526314
GRCh38:
Chr1:179557179
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Jul 21, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr1:179526362
GRCh38:
Chr1:179557227
NPHS2Nephrotic syndrome, idiopathic, steroid-resistant, not providedPathogenic/Likely pathogenic
(Sep 16, 2018)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:179526366
GRCh38:
Chr1:179557231
NPHS2Nephrotic syndrome, idiopathic, steroid-resistant, Hereditary nephrotic syndromePathogenic
(Mar 9, 2017)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:179528825
GRCh38:
Chr1:179559690
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Aug 22, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr1:179528845
GRCh38:
Chr1:179559710
NPHS2Nephrotic syndrome, idiopathic, steroid-resistant, not providedPathogenic/Likely pathogenic
(May 5, 2017)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:179528846
GRCh38:
Chr1:179559711
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Sep 2, 2014)
criteria provided, single submitter
63.
GRCh37:
Chr1:179528865
GRCh38:
Chr1:179559730
NPHS2Steroid-resistant nephrotic syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr1:179528869
GRCh38:
Chr1:179559734
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantPathogenic
(Apr 1, 2000)
no assertion criteria provided
65.
GRCh37:
Chr1:179528880
GRCh38:
Chr1:179559746
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantConflicting interpretations of pathogenicity
(Aug 7, 2018)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr1:179528892
GRCh38:
Chr1:179559757
NPHS2not specifiedLikely benigncriteria provided, single submitter
67.
GRCh37:
Chr1:179528897
GRCh38:
Chr1:179559762
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantPathogenicno assertion criteria provided
68.
GRCh37:
Chr1:179530366
GRCh38:
Chr1:179561231
NPHS2Prednisolone responsedrug response
(Jan 18, 2016)
no assertion criteria provided
69.
GRCh37:
Chr1:179530401
GRCh38:
Chr1:179561266
NPHS2Prednisolone responsedrug response
(Jan 18, 2016)
no assertion criteria provided
70.
GRCh37:
Chr1:179530401
GRCh38:
Chr1:179561267
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely benign
(Feb 16, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr1:179530415
GRCh38:
Chr1:179561280
NPHS2not specifiedLikely benign
(Dec 2, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:179530422
GRCh38:
Chr1:179561287
NPHS2Nephrotic syndrome, idiopathic, steroid-resistant, not providedLikely pathogenic
(Dec 30, 2014)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:179530428
GRCh38:
Chr1:179561293
NPHS2not providedLikely benign
(Aug 23, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr1:179530459
GRCh38:
Chr1:179561324
NPHS2not specifiedUncertain significance
(May 31, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr1:179530462
GRCh38:
Chr1:179561327
NPHS2Nephrotic syndrome, idiopathic, steroid-resistant, not provided, Steroid-resistant nephrotic syndrome,
Idiopathic nephrotic syndrome
Conflicting interpretations of pathogenicity
(Dec 8, 2016)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr1:179530463
GRCh38:
Chr1:179561328
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantPathogenic
(Dec 21, 2015)
criteria provided, single submitter
77.
GRCh37:
Chr1:179530490
GRCh38:
Chr1:179561355
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantPathogenic
(Nov 12, 2017)
criteria provided, single submitter
78.
GRCh37:
Chr1:179533783
GRCh38:
Chr1:179564648
NPHS2Prednisolone responsedrug response
(Jan 18, 2016)
no assertion criteria provided
79.
GRCh37:
Chr1:179533824
GRCh38:
Chr1:179564689
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantPathogenic
(Jul 31, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr1:179533831
GRCh38:
Chr1:179564696
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Apr 11, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr1:179533834
GRCh38:
Chr1:179564699
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Jan 8, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr1:179533850
GRCh38:
Chr1:179564715
NPHS2ProteinuriaPathogenic
(Sep 28, 2015)
criteria provided, single submitter
83.
GRCh37:
Chr1:179533899
GRCh38:
Chr1:179564764
NPHS2not specifiedUncertain significance
(Sep 13, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr1:179533915
GRCh38:
Chr1:179564780
NPHS2Nephrotic syndrome, idiopathic, steroid-resistant, not specified, Steroid-resistant nephrotic syndrome
Benign/Likely benign
(Apr 29, 2017)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:179533930
GRCh38:
Chr1:179564795
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Apr 11, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr1:179533984
GRCh38:
Chr1:179564849
NPHS2Prednisolone responsedrug response
(Jan 18, 2016)
no assertion criteria provided
87.
GRCh37:
Chr1:179544712
GRCh38:
Chr1:179575577
NPHS2Steroid-resistant nephrotic syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr1:179544726
GRCh38:
Chr1:179575591
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantPathogenic
(Apr 1, 2000)
no assertion criteria provided
89.
GRCh37:
Chr1:179544750-179544751
GRCh38:
Chr1:179575616
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Apr 2, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr1:179544789
GRCh38:
Chr1:179575654
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantPathogenic
(Nov 13, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr1:179544803-179544806
GRCh38:
Chr1:179575669-179575671
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantUncertain significance
(Dec 24, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr1:179544818
GRCh38:
Chr1:179575683
NPHS2not specifiedLikely benign
(Dec 2, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr1:179544833
GRCh38:
Chr1:179575699
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Mar 21, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr1:179544834
GRCh38:
Chr1:179575699
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Dec 5, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr1:179544844
GRCh38:
Chr1:179575709
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Oct 24, 2017)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:179544852
GRCh38:
Chr1:179575717
NPHS2Steroid-resistant nephrotic syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr1:179544857
GRCh38:
Chr1:179575722
NPHS2not specifiedUncertain significance
(Oct 28, 2015)
criteria provided, single submitter
98.
GRCh37:
Chr1:179544858-179544862
GRCh38:
Chr1:179575723-179575727
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely pathogenic
(Apr 6, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr1:179544876
GRCh38:
Chr1:179575741
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantLikely benign
(Feb 17, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr1:179544885
GRCh38:
Chr1:179575750
NPHS2Nephrotic syndrome, idiopathic, steroid-resistantPathogenic
(Jan 1, 2016)
no assertion criteria provided
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