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Items: 1 to 100 of 216

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:41318475-41318481
GRCh38:
Chr22:40922471-40922477
XPNPEP3D398fsNephronophthisis-like nephropathy 1Likely pathogenic
(May 2, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr22:41282385
GRCh38:
Chr22:40886381
XPNPEP3Q220*Nephronophthisis-like nephropathy 1Likely pathogenic
(May 2, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr22:41282297-41282539
XPNPEP3Nephronophthisis-like nephropathy 1Pathogenic
(Dec 15, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr22:41277754-41278201
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jul 24, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr22:41278055
GRCh38:
Chr22:40882051
XPNPEP3R155WNephronophthisis-like nephropathy 1Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr22:41253258
GRCh38:
Chr22:40857254
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(May 15, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr22:41303664
GRCh38:
Chr22:40907660
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Oct 7, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr22:41318358
GRCh38:
Chr22:40922354
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Apr 1, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr22:41277879
GRCh38:
Chr22:40881875
XPNPEP3T96INephronophthisis-like nephropathy 1, Inborn genetic diseasesUncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr22:41264986
GRCh38:
Chr22:40868982
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(May 29, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr22:41277884
GRCh38:
Chr22:40881880
XPNPEP3V98INephronophthisis-like nephropathy 1Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr22:41320390
GRCh38:
Chr22:40924386
XPNPEP3H421DNephronophthisis-like nephropathy 1Uncertain significance
(Apr 4, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr22:41282488
GRCh38:
Chr22:40886484
XPNPEP3R254QNephronophthisis-like nephropathy 1Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr22:41282467
GRCh38:
Chr22:40886463
XPNPEP3K247RNephronophthisis-like nephropathy 1Uncertain significance
(Jun 16, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr22:41305112
GRCh38:
Chr22:40909108
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Aug 23, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr22:41322403
GRCh38:
Chr22:40926399
XPNPEP3M496INephronophthisis-like nephropathy 1Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr22:41322398
GRCh38:
Chr22:40926394
XPNPEP3E495KNephronophthisis-like nephropathy 1Uncertain significance
(Jan 22, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr22:41320443
GRCh38:
Chr22:40924439
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Feb 26, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr22:41322278
GRCh38:
Chr22:40926274
XPNPEP3Y455HNephronophthisis-like nephropathy 1Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr22:41318463
GRCh38:
Chr22:40922459
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jul 9, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr22:41303572
GRCh38:
Chr22:40907568
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jun 17, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr22:41318374
GRCh38:
Chr22:40922370
XPNPEP3L365VNephronophthisis-like nephropathy 1Uncertain significance
(May 12, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr22:41277985
GRCh38:
Chr22:40881981
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Apr 1, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr22:41322317
GRCh38:
Chr22:40926313
XPNPEP3R468WNephronophthisis-like nephropathy 1Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr22:41282488
GRCh38:
Chr22:40886484
XPNPEP3R254LNephronophthisis-like nephropathy 1Benign
(Aug 20, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr22:41282427
GRCh38:
Chr22:40886423
XPNPEP3R234WNephronophthisis-like nephropathy 1Uncertain significance
(Aug 21, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr22:41320356
GRCh38:
Chr22:40924352
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Aug 10, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr22:41305152
GRCh38:
Chr22:40909148
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(May 18, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr22:41318468
GRCh38:
Chr22:40922464
XPNPEP3L396HNephronophthisis-like nephropathy 1Uncertain significance
(Dec 2, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr22:41282452
GRCh38:
Chr22:40886448
XPNPEP3R242LNephronophthisis-like nephropathy 1Uncertain significance
(Jun 28, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr22:41277967
GRCh38:
Chr22:40881963
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jun 28, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr22:41322342
GRCh38:
Chr22:40926338
XPNPEP3D476ANephronophthisis-like nephropathy 1Uncertain significance
(Sep 9, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr22:41253254
GRCh38:
Chr22:40857250
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr22:41282501
GRCh38:
Chr22:40886497
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jul 14, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr22:41278032
GRCh38:
Chr22:40882028
XPNPEP3H147PNephronophthisis-like nephropathy 1Uncertain significance
(Dec 8, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr22:41282538
GRCh38:
Chr22:40886534
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jul 15, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr22:41253236
GRCh38:
Chr22:40857232
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Oct 13, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr22:41322294
GRCh38:
Chr22:40926290
XPNPEP3D460GNephronophthisis-like nephropathy 1Uncertain significance
(Aug 31, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr22:41277881
GRCh38:
Chr22:40881877
XPNPEP3V97MNephronophthisis-like nephropathy 1Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr22:41322364
GRCh38:
Chr22:40926360
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Mar 4, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr22:41305196
GRCh38:
Chr22:40909192
XPNPEP3R309QNephronophthisis-like nephropathy 1, Kidney disorderUncertain significance
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr22:41303573
GRCh38:
Chr22:40907569
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Oct 3, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr22:41305203
GRCh38:
Chr22:40909199
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jun 27, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr22:41282339
GRCh38:
Chr22:40886335
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Dec 22, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr22:41277889
GRCh38:
Chr22:40881885
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Aug 30, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr22:41320505
GRCh38:
Chr22:40924501
XPNPEP3Nephronophthisis-like nephropathy 1Benign/Likely benign
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr22:41277775
GRCh38:
Chr22:40881771
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jun 20, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr22:41277864
GRCh38:
Chr22:40881860
XPNPEP3S91NNephronophthisis-like nephropathy 1Uncertain significance
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr22:41253232
GRCh38:
Chr22:40857228
XPNPEP3N16INephronophthisis-like nephropathy 1Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr22:41310330
GRCh38:
Chr22:40914326
XPNPEP3Nephronophthisis-like nephropathy 1Likely pathogenic
(Aug 16, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr22:41322426
GRCh38:
Chr22:40926422
XPNPEP3S504NNephronophthisis-like nephropathy 1Uncertain significance
(Jun 13, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr22:41265023
GRCh38:
Chr22:40869019
XPNPEP3R29*Nephronophthisis-like nephropathy 1Pathogenic
(Jul 26, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr22:41277863
GRCh38:
Chr22:40881859
XPNPEP3S91GNephronophthisis-like nephropathy 1Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr22:41277941
GRCh38:
Chr22:40881937
XPNPEP3Q117ENephronophthisis-like nephropathy 1Uncertain significance
(Nov 10, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr22:41282446-41282447
GRCh38:
Chr22:40886442-40886443
XPNPEP3Q241fsNephronophthisis-like nephropathy 1Pathogenic
(Aug 9, 2021)
no assertion criteria provided
56.
GRCh37:
Chr22:41318520-41318524
GRCh38:
Chr22:40922516-40922520
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jan 10, 2020)
criteria provided, single submitter
57.
GRCh37:
Chr22:41318454
GRCh38:
Chr22:40922450
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Aug 15, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr22:41282372
GRCh38:
Chr22:40886368
XPNPEP3S216fsNephronophthisis-like nephropathy 1Likely pathogenic
(Feb 11, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr22:41310313
GRCh38:
Chr22:40914309
XPNPEP3W347*Nephronophthisis-like nephropathy 1Pathogenic
(Feb 10, 2021)
no assertion criteria provided
60.
GRCh37:
Chr22:41305244
GRCh38:
Chr22:40909240
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(May 12, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr22:41320388
GRCh38:
Chr22:40924384
XPNPEP3H420RNephronophthisis-like nephropathy 1Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr22:41327084
GRCh38:
Chr22:40931080
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr22:41326969
GRCh38:
Chr22:40930965
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jan 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr22:41323878
GRCh38:
Chr22:40927874
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr22:41323833
GRCh38:
Chr22:40927829
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr22:41323815
GRCh38:
Chr22:40927811
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr22:41323740
GRCh38:
Chr22:40927736
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr22:41328618
GRCh38:
Chr22:40932614
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jan 12, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr22:41328544
GRCh38:
Chr22:40932540
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr22:41328494
GRCh38:
Chr22:40932490
XPNPEP3Nephronophthisis-like nephropathy 1Benign
(Apr 27, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr22:41328168
GRCh38:
Chr22:40932164
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr22:41326637
GRCh38:
Chr22:40930633
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr22:41326605
GRCh38:
Chr22:40930601
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr22:41326597
GRCh38:
Chr22:40930593
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr22:41326412
GRCh38:
Chr22:40930408
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr22:41325088
GRCh38:
Chr22:40929084
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr22:41323601
GRCh38:
Chr22:40927597
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr22:41323515
GRCh38:
Chr22:40927511
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr22:41323434
GRCh38:
Chr22:40927430
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr22:41323308
GRCh38:
Chr22:40927304
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr22:41305245
GRCh38:
Chr22:40909241
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr22:41282532
GRCh38:
Chr22:40886528
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Mar 30, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr22:41328095
GRCh38:
Chr22:40932091
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr22:41328080
GRCh38:
Chr22:40932076
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr22:41327986
GRCh38:
Chr22:40931982
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr22:41327884
GRCh38:
Chr22:40931880
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jan 13, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr22:41326195
GRCh38:
Chr22:40930191
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr22:41326145
GRCh38:
Chr22:40930141
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr22:41326137
GRCh38:
Chr22:40930133
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr22:41326057
GRCh38:
Chr22:40930053
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr22:41325981
GRCh38:
Chr22:40929977
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr22:41324845
GRCh38:
Chr22:40928841
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr22:41324751
GRCh38:
Chr22:40928747
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr22:41324614
GRCh38:
Chr22:40928610
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr22:41324435
GRCh38:
Chr22:40928431
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr22:41324403
GRCh38:
Chr22:40928399
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr22:41322829
GRCh38:
Chr22:40926825
XPNPEP3Nephronophthisis-like nephropathy 1Likely benign
(Jan 13, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr22:41277855
GRCh38:
Chr22:40881851
XPNPEP3Q88RNephronophthisis-like nephropathy 1Uncertain significance
(Sep 17, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr22:41265050
GRCh38:
Chr22:40869046
XPNPEP3E38KNephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr22:41253158
GRCh38:
Chr22:40857154
XPNPEP3Nephronophthisis-like nephropathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
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