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Links from MedGen

Items: 1 to 100 of 116

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:121500668
GRCh38:
Chr3:121781821
IQCB1W311*, W444*Senior-Loken syndrome 5Pathogenic
(May 18, 2021)		criteria provided, single submitter
2.
IQCB1Senior-Loken syndrome 5Uncertain significanceno assertion criteria provided
3.
GRCh37:
Chr3:121515946
GRCh38:
Chr3:121797099
IQCB1Nephronophthisis, Senior-Loken syndrome 5Likely benign
(May 5, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr3:121545003
GRCh38:
Chr3:121826156
IQCB1Nephronophthisis, Senior-Loken syndrome 5Likely benign
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:121518237
GRCh38:
Chr3:121799390
IQCB1Senior-Loken syndrome 5, NephronophthisisLikely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr3:121500721
GRCh38:
Chr3:121781874
IQCB1A427T, A294TSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr3:121509046
GRCh38:
Chr3:121790199
IQCB1M335V, M202VNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Jan 16, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:121509049
GRCh38:
Chr3:121790202
IQCB1K201Q, K334QSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Jun 9, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr3:121518117
GRCh38:
Chr3:121799270
IQCB1T231ISenior-Loken syndrome 5, NephronophthisisUncertain significance
(Jun 19, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr3:121491466
GRCh38:
Chr3:121772619
IQCB1R369Q, R502QSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:121527805
GRCh38:
Chr3:121808958
IQCB1L149ISenior-Loken syndrome 5, NephronophthisisUncertain significance
(May 3, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:121489262
GRCh38:
Chr3:121770415
IQCB1I443T, I576TNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:121500636
GRCh38:
Chr3:121781789
IQCB1R455Q, R322QSenior-Loken syndrome 5, Inborn genetic diseases, Nephronophthisis
Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:121527792
GRCh38:
Chr3:121808945
IQCB1L153SInborn genetic diseases, Senior-Loken syndrome 5, Nephronophthisis
Uncertain significance
(May 15, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:121514386
GRCh38:
Chr3:121795539
IQCB1Q302ENephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:121545019
GRCh38:
Chr3:121826172
IQCB1C91YNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Jan 20, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr3:121507138
GRCh38:
Chr3:121788291
IQCB1Q291R, Q424RNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Dec 29, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr3:121500666
GRCh38:
Chr3:121781819
IQCB1R312Q, R445QNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:121489413
GRCh38:
Chr3:121770566
IQCB1S393R, S526RNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr3:121516076
GRCh38:
Chr3:121797229
IQCB1Senior-Loken syndrome 5Likely pathogenic
(Jan 3, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr3:121518236-121518237
GRCh38:
Chr3:121799389-121799390
IQCB1Senior-Loken syndrome 5, NephronophthisisBenign/Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:121509079
GRCh38:
Chr3:121790232
IQCB1Senior-Loken syndrome 5, NephronophthisisBenign/Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:121516086
GRCh38:
Chr3:121797239
IQCB1Nephronophthisis, Senior-Loken syndrome 5Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr3:121547418
GRCh38:
Chr3:121828571
IQCB1Nephronophthisis, Senior-Loken syndrome 5Likely benign
(Feb 24, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:121500719
GRCh38:
Chr3:121781872
IQCB1Nephronophthisis, Senior-Loken syndrome 5Likely benign
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:121491525
GRCh38:
Chr3:121772678
IQCB1Nephronophthisis, Senior-Loken syndrome 5Likely benign
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:121527837
GRCh38:
Chr3:121808990
IQCB1L138*Senior-Loken syndrome 5Likely pathogenic
(Apr 8, 2021)		criteria provided, single submitter
28.
GRCh37:
Chr3:121507159
GRCh38:
Chr3:121788312
IQCB1Y284F, Y417FInborn genetic diseases, Nephronophthisis, Senior-Loken syndrome 5
Uncertain significance
(May 4, 2023)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr3:121489395
GRCh38:
Chr3:121770548
IQCB1G399R, G532RSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr3:121500681
GRCh38:
Chr3:121781834
IQCB1L307P, L440PSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Apr 25, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr3:121526287
GRCh38:
Chr3:121807440
IQCB1L164PSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Mar 12, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr3:121547366
GRCh38:
Chr3:121828519
IQCB1R72GNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:121526198
GRCh38:
Chr3:121807351
IQCB1I194FNephronophthisis, Senior-Loken syndrome 5, Inborn genetic diseases
Uncertain significance
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr3:121489248
GRCh38:
Chr3:121770401
IQCB1D448H, D581HSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr3:121508926
GRCh38:
Chr3:121790079
IQCB1H242N, H375NNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr3:121500676
GRCh38:
Chr3:121781829
IQCB1A309S, A442SNephronophthisis, Inborn genetic diseases, Senior-Loken syndrome 5
Uncertain significance
(Nov 18, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:121514406
GRCh38:
Chr3:121795559
IQCB1H295RNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Jan 7, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr3:121491401
GRCh38:
Chr3:121772554
IQCB1Senior-Loken syndrome 5, NephronophthisisUncertain significance
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr3:121526246
GRCh38:
Chr3:121807399
IQCB1V178INephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr3:121507256
GRCh38:
Chr3:121788409
IQCB1E252Q, E385QNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr3:121507258
GRCh38:
Chr3:121788411
IQCB1R384Q, R251QSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Jan 27, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr3:121514338
GRCh38:
Chr3:121795491
IQCB1P318ASenior-Loken syndrome 5, NephronophthisisUncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr3:121491551
GRCh38:
Chr3:121772704
IQCB1M341V, M474VNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr3:121547423
GRCh38:
Chr3:121828576
IQCB1I53VSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr3:121507259
GRCh38:
Chr3:121788412
IQCB1R384W, R251WNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr3:121500607
GRCh38:
Chr3:121781760
IQCB1Y465H, Y332HSenior-Loken syndrome 5, NephronophthisisConflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr3:121491462
GRCh38:
Chr3:121772615
IQCB1Senior-Loken syndrome 5, NephronophthisisBenign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr3:121553890
GRCh38:
Chr3:121835043
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr3:121547823
GRCh38:
Chr3:121828976
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr3:121547411
GRCh38:
Chr3:121828564
IQCB1D57YSenior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr3:121489333
GRCh38:
Chr3:121770486
IQCB1Nephronophthisis, Senior-Loken syndrome 5Conflicting interpretations of pathogenicity
(Nov 23, 2020)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr3:121489044
GRCh38:
Chr3:121770197
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr3:121489041
GRCh38:
Chr3:121770194
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr3:121489032
GRCh38:
Chr3:121770185
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr3:121516050
GRCh38:
Chr3:121797203
IQCB1Q264PSenior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr3:121488974
GRCh38:
Chr3:121770127
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr3:121488865
GRCh38:
Chr3:121770018
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr3:121488793
GRCh38:
Chr3:121769946
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr3:121514410
GRCh38:
Chr3:121795563
IQCB1L294VNephronophthisis, Senior-Loken syndrome 5Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr3:121547462
GRCh38:
Chr3:121828615
IQCB1P40SNephronophthisis, Senior-Loken syndrome 5, Inborn genetic diseases
Uncertain significance
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:121491505
GRCh38:
Chr3:121772658
IQCB1R356Q, R489QInborn genetic diseases, Senior-Loken syndrome 5, Nephronophthisis
Conflicting interpretations of pathogenicity
(Apr 7, 2023)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr3:121526291
GRCh38:
Chr3:121807444
IQCB1Senior-Loken syndrome 5Pathogenic
(Feb 1, 2019)		criteria provided, single submitter
63.
GRCh37:
Chr3:121500510-121500511
GRCh38:
Chr3:121781663-121781664
IQCB1not provided, Senior-Loken syndrome 5Benign
(Sep 13, 2019)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr3:121500479-121500480
GRCh38:
Chr3:121781632-121781633
IQCB1not provided, Senior-Loken syndrome 5Benign
(Nov 7, 2019)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:121526235
GRCh38:
Chr3:121807388
IQCB1Senior-Loken syndrome 5, NephronophthisisLikely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:121507122
GRCh38:
Chr3:121788275
IQCB1Senior-Loken syndrome 5, NephronophthisisLikely benign
(Jun 28, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr3:121500689
GRCh38:
Chr3:121781842
IQCB1Senior-Loken syndrome 5, NephronophthisisBenign/Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:121516059
GRCh38:
Chr3:121797212
IQCB1L261RNephronophthisis, Senior-Loken syndrome 5Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr3:121544933
GRCh38:
Chr3:121826086
IQCB1R120*Senior-Loken syndrome 5Uncertain significance
(Nov 20, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr3:121491521
GRCh38:
Chr3:121772674
IQCB1A484T, A351Tnot provided, Nephronophthisis, not specified,
Senior-Loken syndrome 5		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr3:121491413
GRCh38:
Chr3:121772566
IQCB1Q520*, Q387*Nephronophthisis, Senior-Loken syndrome 5, not provided
Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr3:121514389-121514390
GRCh38:
Chr3:121795542-121795543
IQCB1I301fsRetinal dystrophy, Senior-Loken syndrome 5, Nephronophthisis
Pathogenic
(Sep 18, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr3:121553904
GRCh38:
Chr3:121835057
IQCB1Senior-Loken syndrome 5Benign
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr3:121553901
GRCh38:
Chr3:121835054
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr3:121553896
GRCh38:
Chr3:121835049
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr3:121553889
GRCh38:
Chr3:121835042
IQCB1Senior-Loken syndrome 5Likely benign
(Jan 12, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr3:121553865
GRCh38:
Chr3:121835018
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr3:121544943
GRCh38:
Chr3:121826096
IQCB1Nephronophthisis, Senior-Loken syndrome 5Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr3:121527768
GRCh38:
Chr3:121808921
IQCB1Q161RInborn genetic diseases, Nephronophthisis, Senior-Loken syndrome 5
Uncertain significance
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr3:121518095
GRCh38:
Chr3:121799248
IQCB1Nephronophthisis, Senior-Loken syndrome 5Conflicting interpretations of pathogenicity
(Jul 13, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr3:121518087
GRCh38:
Chr3:121799240
IQCB1H241RSenior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr3:121516018
GRCh38:
Chr3:121797171
IQCB1R275GSenior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr3:121514424
GRCh38:
Chr3:121795577
IQCB1Nephronophthisis, Senior-Loken syndrome 5Conflicting interpretations of pathogenicity
(Oct 8, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr3:121508907
GRCh38:
Chr3:121790060
IQCB1Nephronophthisis, Senior-Loken syndrome 5Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr3:121507274
GRCh38:
Chr3:121788427
IQCB1V379M, V246MSenior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr3:121507124
GRCh38:
Chr3:121788277
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr3:121491427
GRCh38:
Chr3:121772580
IQCB1S515I, S382ISenior-Loken syndrome 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr3:121489394
GRCh38:
Chr3:121770547
IQCB1G532E, G399ESenior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr3:121489378
GRCh38:
Chr3:121770531
IQCB1Nephronophthisis, Senior-Loken syndrome 5Conflicting interpretations of pathogenicity
(Aug 9, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr3:121489250
GRCh38:
Chr3:121770403
IQCB1K580T, K447TSenior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr3:121488995
GRCh38:
Chr3:121770148
IQCB1not provided, Senior-Loken syndrome 5Benign
(Nov 12, 2018)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr3:121488966
GRCh38:
Chr3:121770119
IQCB1Senior-Loken syndrome 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr3:121547366
GRCh38:
Chr3:121828519
IQCB1R72*Nephronophthisis, Leber congenital amaurosis, not provided,
Senior-Loken syndrome 5		Pathogenic
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:121518221
GRCh38:
Chr3:121799374
IQCB1Senior-Loken syndrome 5, Nephronophthisis, not specified
Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr3:121500699
GRCh38:
Chr3:121781852
IQCB1C434Y, C301YNephronophthisis, not provided, Senior-Loken syndrome 5,
not specified		Benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr3:121491530
GRCh38:
Chr3:121772683
IQCB1E481K, E348Knot provided, Senior-Loken syndrome 5, Nephronophthisis
Conflicting interpretations of pathogenicity
(May 30, 2023)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr3:121527826
GRCh38:
Chr3:121808979
IQCB1F142Lnot specified, Senior-Loken syndrome 5, not provided,
Nephronophthisis		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr3:121500697
GRCh38:
Chr3:121781850
IQCB1R435C, R302CNephronophthisis, Senior-Loken syndrome 5, not provided
Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr3:121509003
GRCh38:
Chr3:121790156
IQCB1K349R, K216RSenior-Loken syndrome 5, NephronophthisisUncertain significance
(Aug 6, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr3:121491422
GRCh38:
Chr3:121772575
IQCB1N517Y, N384Ynot provided, not specified, Nephronophthisis,
Senior-Loken syndrome 5		Conflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
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