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Items: 73

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:32410639
GRCh38:
Chr11:32389093
WT1Q116*, Q278*, Q292*, Q492*, Q509*, Q512*, Q464*, Q454*, Q465*, Q490*, Q495*, Q507*, Q258*, Q468*, Q481*Nephrotic syndrome, type 4Pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr11:32410674
GRCh38:
Chr11:32389128
WT1R480Q, R497Q, R280Q, R104Q, R266Q, R500Q, R442Q, R483Q, R495Q, R452Q, R453Q, R456Q, R469Q, R246Q, R478QFrasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome,
Drash syndrome
Pathogenic
(Jun 14, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:32410725
GRCh38:
Chr11:32389179
WT1G263D, S483N, G463D, S249N, S87N, G480D, S461N, S466N, G452D, G478D, S436N, G439D, S229N, G435D, S425Nnot providedLikely pathogenic
(Sep 16, 2018)
no assertion criteria provided
4.
GRCh37:
Chr11:32410726-32410745
GRCh38:
Chr11:32389180-32389199
WT1not providedLikely pathogenic
(Jul 18, 2019)
criteria provided, single submitter
5.
GRCh37:
Chr11:32413512
GRCh38:
Chr11:32391966
WT1Frasier syndromePathogenic
(Dec 1, 1997)
no assertion criteria provided
6.
GRCh37:
Chr11:32413513
GRCh38:
Chr11:32391967
WT1Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome,
Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome,
Meacham syndrome, Aniridia 1, Nephrotic syndrome, type 4,
Frasier syndrome, Mesothelioma, malignantDrash syndrome,
Familial idiopathic steroid-resistant nephrotic syndrome, not provided, Nephrotic syndrome, type 4,
Drash syndrome, Frasier syndrome, ...see more
Pathogenic
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr11:32413514
GRCh38:
Chr11:32391968
WT1Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome,
Drash syndrome, not provided, Nephrotic syndrome, type 4,
Frasier syndrome
Pathogenic/Likely pathogenic
(Dec 30, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:32413516
GRCh38:
Chr11:32391970
WT1Drash syndrome, Frasier syndrome, Wilms tumor 1,
11p partial monosomy syndrome
Likely pathogenic
(Jun 16, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr11:32413544
GRCh38:
Chr11:32391998
WT1H257P, H474P, H240P, H457P, H78P, H427P, H220P, H433P, H472P, H416P, H452PDrash syndromeLikely pathogenic
(Mar 28, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr11:32413545
GRCh38:
Chr11:32391999
WT1H240Y, H257Y, H457Y, H474Y, H78Y, H220Y, H416Y, H427Y, H452Y, H433Y, H469Y, H472Ynot providedLikely pathogenic
(Jun 21, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr11:32413559
GRCh38:
Chr11:32392013
WT1D252G, D452G, D469G, D73G, D235G, D428G, D215G, D422G, D467G, D411GWilms tumor 1, 11p partial monosomy syndrome, Drash syndrome,
Frasier syndrome
Likely pathogenic
(Jul 14, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr11:32413560
GRCh38:
Chr11:32392014
WT1D252Y, D452Y, D469Y, D235Y, D73Y, D411Y, D447Y, D215Y, D422Y, D428Y, D467YDrash syndrome, Nephrotic syndrome, type 4Likely pathogenic
(Mar 16, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr11:32413560
GRCh38:
Chr11:32392014
WT1D252N, D452N, D469N, D235N, D73N, D215N, D428N, D411N, D422N, D467NNephrotic syndrome, type 4Pathogenic
(Jan 3, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:32413565
GRCh38:
Chr11:32392019
WT1R250Q, R467Q, R450Q, R71Q, R233Q, R213Q, R465Q, R409Q, R420Q, R445Q, R426QFrasier syndrome, Aniridia 1, Drash syndrome,
Meacham syndrome, Mesothelioma, malignant, Nephrotic syndrome, type 4,
Wilms tumor 1, 11p partial monosomy syndrome, Kidney disorder,
not provided, Wilms tumor 1Frasier syndrome,
...see more
Pathogenic/Likely pathogenic
(Jun 21, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr11:32413565
GRCh38:
Chr11:32392019
WT1R250P, R450P, R467P, R71P, R233P, R213P, R420P, R426P, R409P, R465PDrash syndromePathogenic
(May 1, 1992)
no assertion criteria provided
16.
GRCh37:
Chr11:32413566
GRCh38:
Chr11:32392020
WT1R250W, R467W, R233W, R450W, R71W, R465W, R213W, R409W, R420W, R426WDrash syndrome, Wilms tumor 1, 11p partial monosomy syndrome,
Frasier syndrome, Drash syndrome, Kidney disorder,
not provided, Meacham syndrome, Wilms tumor 1,
11p partial monosomy syndrome, Nephrotic syndrome, type 4Frasier syndrome,
Drash syndrome, Aniridia 1, Mesothelioma, malignant,
...see more
Pathogenic
(Dec 22, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:32413572
GRCh38:
Chr11:32392026
WT1F248L, F231L, F448L, F465L, F69L, F211L, F407L, F418L, F424L, F463LFrasier syndromePathogenic
(Jan 1, 1999)
no assertion criteria provided
18.
GRCh37:
Chr11:32413578
GRCh38:
Chr11:32392032
WT1R246*, R229*, R446*, R463*, R67*, R209*, R461*, R416*, R405*, R422*Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome,
Drash syndrome, Meacham syndrome, Frasier syndrome,
Wilms tumor 1, 11p partial monosomy syndrome, Nephrotic syndrome, type 4,
Aniridia 1, Drash syndromeMesothelioma, malignant,
not provided, Focal segmental glomerulosclerosis, ...see more
Pathogenic
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr11:32413593
GRCh38:
Chr11:32392047
WT1C400R, C436R, C411R, C241R, C441R, C458R, C204R, C224R, C417R, C453R, C456R, C62RWilms tumor 1, 11p partial monosomy syndrome, Drash syndrome,
Frasier syndrome
Pathogenic
(May 29, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:32413599
GRCh38:
Chr11:32392053
WT1F239L, F439L, F456L, F222L, F60L, F398L, F415L, F409L, F454L, F202LNephrotic syndrome, type 4Pathogenic
(Apr 1, 1998)
no assertion criteria provided
21.
GRCh37:
Chr11:32414201-32414208
GRCh38:
Chr11:32392655-32392662
WT1Drash syndromeLikely pathogenic
(May 28, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr11:32414215
GRCh38:
Chr11:32392669
WT1T234P, T55P, T217P, T434P, T451P, T393P, T410P, T429P, T197P, T449Pnot providedLikely pathogenic
(Nov 3, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr11:32414218
GRCh38:
Chr11:32392672
WT1H233Y, H216Y, H450Y, H433Y, H54Y, H196Y, H392Y, H409Y, H448YWilms tumor 1, 11p partial monosomy syndrome, Drash syndrome,
Frasier syndrome, Drash syndrome
Pathogenic/Likely pathogenic
(Oct 9, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:32414228
GRCh38:
Chr11:32392682
WT1H429Q, H229Q, H212Q, H446Q, H50Q, H424Q, H192Q, H405Q, H444Q, H388Q, H441QDrash syndrome, Frasier syndrome, Wilms tumor 1,
Drash syndrome, 11p partial monosomy syndrome, Frasier syndrome
Pathogenic
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:32414228
GRCh38:
Chr11:32392682
WT1H229Q, H429Q, H212Q, H446Q, H50Q, H444Q, H192Q, H388Q, H405QDrash syndromePathogenic
(Oct 18, 2016)
no assertion criteria provided
26.
GRCh37:
Chr11:32414244
GRCh38:
Chr11:32392698
WT1D187V, D207V, D224V, D383V, D400V, D419V, D424V, D436V, D439V, D441V, D45VNephrotic syndrome, type 4Likely pathogenic
(Jan 14, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:32414250
GRCh38:
Chr11:32392704
WT1R222H, R422H, R439H, R205H, R43H, R398H, R437H, R185H, R381HWilms tumor 1, Drash syndrome, Nephrotic syndrome, type 4,
Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome,
Drash syndrome, Frasier syndrome, Wilms tumor 1,
11p partial monosomy syndrome, Meacham syndromeDrash syndrome,
Aniridia 1, Nephrotic syndrome, type 4, Mesothelioma, malignant,
Frasier syndrome, not provided, Nephrotic syndrome, type 4,
Wilms tumor 1, ...see more
Pathogenic
(Jan 17, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:32414251
GRCh38:
Chr11:32392705
WT1R222C, R422C, R205C, R439C, R43C, R381C, R398C, R185C, R437Cnot providedPathogenic
(Jun 18, 2020)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:32414263
GRCh38:
Chr11:32392717
WT1R218*, R201*, R39*, R418*, R435*, R394*, R377*, R181*, R433*Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome,
Frasier syndrome, Nephrotic syndrome, type 4, Wilms tumor 1,
11p partial monosomy syndrome, Drash syndrome, Meacham syndrome,
Mesothelioma, malignant, Frasier syndromeAniridia 1,
not provided, Wilms tumor 1, ...see more
Pathogenic
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr11:32414267
GRCh38:
Chr11:32392721
WT1C216*, C375*, C433*, C392*, C416*, C199*, C179*, C37*, C411*, C428*, C431*Drash syndrome, Frasier syndrome, Wilms tumor 1,
11p partial monosomy syndrome
Pathogenic
(Sep 30, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:32414269
GRCh38:
Chr11:32392723
WT1C216G, C199G, C37G, C433G, C416G, C179G, C392G, C431G, C375GWilms tumor 1, 11p partial monosomy syndrome, Drash syndrome,
Frasier syndrome
Likely pathogenic
(Apr 11, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:32414285
GRCh38:
Chr11:32392739
WT1Q427H, Q193H, Q410H, Q210H, Q31H, Q405H, Q173H, Q386H, Q425H, Q369H, Q422HNephrotic range proteinuriaLikely pathogenicno assertion criteria provided
33.
GRCh37:
Chr11:32414301
GRCh38:
Chr11:32392755
WT1G205V, G422V, G405V, G188V, G26V, G364V, G420V, G400V, G168V, G381VFamilial idiopathic steroid-resistant nephrotic syndromeLikely pathogenic
(Oct 22, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr11:32417797-32439206
GRCh38:
Chr11:32396251-32417660
WT1Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome,
Drash syndrome
Pathogenic
(Aug 12, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr11:32417808
GRCh38:
Chr11:32396262
WT1H203P, H420P, H403P, H186P, H24P, H166P, H418P, H362P, H379P, H398PNephrotic syndrome, type 4Likely pathogenic
(Sep 18, 2017)
no assertion criteria provided
36.
GRCh37:
Chr11:32417821-32417822
GRCh38:
Chr11:32396275-32396276
WT1H182fs, H199fs, H20fs, H399fs, H416fsWilms tumor 1Likely pathogeniccriteria provided, single submitter
37.
GRCh37:
Chr11:32417827
GRCh38:
Chr11:32396281
WT1Q18*, Q414*, Q197*, Q397*, Q180*, Q160*, Q392*, Q409*, Q373*, Q356*, Q412*Drash syndrome, Frasier syndrome, Wilms tumor 1,
11p partial monosomy syndrome
Pathogenic
(Aug 24, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr11:32417859
GRCh38:
Chr11:32396313
WT1C186Y, C169Y, C386Y, C403Y, C7Y, C362Y, C401Y, C149Y, C345YDrash syndromePathogenic
(May 1, 1992)
no assertion criteria provided
39.
GRCh37:
Chr11:32417860
GRCh38:
Chr11:32396314
WT1C149G, C169G, C186G, C345G, C362G, C381G, C386G, C398G, C401G, C403G, C7GWilms tumor 1Likely pathogenic
(Dec 10, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:32417909-32417910
GRCh38:
Chr11:32396363-32396364
WT1A153fs, A170fs, A387fs, A370fsAcute myeloid leukemiaLikely pathogenic
(Oct 2, 2014)
no assertion criteria provided
41.
GRCh37:
Chr11:32417918
GRCh38:
Chr11:32396372
WT1V384fs, V150fs, V167fs, V367fsDrash syndrome, Frasier syndrome, Wilms tumor 1,
11p partial monosomy syndrome
Pathogenic
(Aug 20, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr11:32417925
GRCh38:
Chr11:32396379
WT1P147fs, P164fs, P364fs, P381fsWilms tumor 1Likely pathogenic
(Oct 15, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr11:32417945-32417946
GRCh38:
Chr11:32396399-32396400
WT1R141fs, R358fs, R375fs, R158fsFrasier syndrome, Drash syndrome, Wilms tumor 1,
11p partial monosomy syndrome
Pathogenic
(Jul 29, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr11:32417947
GRCh38:
Chr11:32396401
WT1R157*, R374*, R357*, R140*, R316*, R333*, R372*, R120*, R352*Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome,
Frasier syndrome, Inborn genetic diseases, See cases,
not provided, Wilms tumor 1, Drash syndrome
Pathogenic
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr11:32417953
GRCh38:
Chr11:32396407
WT1Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome,
Frasier syndrome
Pathogenic
(Apr 29, 2020)
criteria provided, single submitter
46.
GRCh37:
Chr11:32417954
GRCh38:
Chr11:32396408
WT1Drash syndrome, Frasier syndrome, Wilms tumor 1,
11p partial monosomy syndrome
Likely pathogenic
(May 24, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:32421513
GRCh38:
Chr11:32399967
WT1G131fs, G148fs, G348fs, G365fsWilms tumor 1Pathogenic
(Oct 3, 1991)
no assertion criteria provided
48.
GRCh37:
Chr11:32421530
GRCh38:
Chr11:32399984
WT1Y354*, Y357*, Y125*, Y142*, Y342*, Y105*, Y318*, Y337*, Y359*, Y301*Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome,
Drash syndrome
Pathogenic
(Sep 4, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:32421546
GRCh38:
Chr11:32400000
WT1L120fs, L137fs, L337fs, L354fsnot providedPathogenic
(Oct 23, 2020)
criteria provided, single submitter
50.
GRCh37:
Chr11:32421571
GRCh38:
Chr11:32400025
WT1S129G, S329G, S112G, S346G, S305G, S92G, S288G, S344GMesotheliomaPathogenic
(Dec 1, 1993)
no assertion criteria provided
51.
GRCh37:
Chr11:32421586
GRCh38:
Chr11:32400040
WT1S107G, S124G, S324G, S341G, S300G, S319G, S283G, S336G, S87GPremature ovarian failureLikely pathogenic
(Mar 2, 2020)
criteria provided, single submitter
52.
GRCh37:
Chr11:32438034
GRCh38:
Chr11:32416488
WT1Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome,
Drash syndrome
Likely pathogenic
(Oct 4, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr11:32438035
GRCh38:
Chr11:32416489
WT1Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome,
Drash syndrome
Likely pathogenic
(Oct 6, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:32438069
GRCh38:
Chr11:32416523
WT1S111F, S328F, S287F, S323F, S74FDisorder of sexual differentiationLikely pathogenic
(Aug 17, 2021)
no assertion criteria provided
55.
GRCh37:
Chr11:32439122
GRCh38:
Chr11:32417576
WT1Drash syndrome, Frasier syndrome, Wilms tumor 1,
11p partial monosomy syndrome, not provided
Pathogenic/Likely pathogenic
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:32439175
GRCh38:
Chr11:32417629
WT1Q305*, Q51*, Q264*, Q88*, Q300*Drash syndrome, Frasier syndrome, Wilms tumor 1,
11p partial monosomy syndrome
Pathogenic
(Mar 9, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:32439177
GRCh38:
Chr11:32417631
WT1S87F, S304F, S263F, S50FFrasier syndromeLikely pathogenic
(Jul 18, 2018)
no assertion criteria provided
58.
GRCh37:
Chr11:32439179-32439195
GRCh38:
Chr11:32417633-32417649
WT1N81fs, N298fsWilms tumor 1Pathogenic
(Oct 3, 1991)
no assertion criteria provided
59.
GRCh37:
Chr11:32439188
GRCh38:
Chr11:32417642
WT1Y300*, Y83*, Y259*, Y295*, Y46*not providedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:32439191
GRCh38:
Chr11:32417645
WT1L299fs, L82fsWilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome,
Drash syndrome
Pathogenic
(Nov 7, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr11:32449499-32449507
GRCh38:
Chr11:32427953-32427961
WT1Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome,
Drash syndrome
Likely pathogenic
(Aug 12, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr11:32449507
GRCh38:
Chr11:32427961
WT1Y294*, Y77*, Y253*, Y289*, Y40*Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome,
Drash syndrome
Pathogenic
(Dec 28, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr11:32449507-32449509
GRCh38:
Chr11:32427961-32427963
WT1Y77del, Y294del, Y40del, Y253delWilms tumor 1Pathogenic
(Mar 23, 2013)
no assertion criteria provided
64.
GRCh37:
Chr11:32449554-32449555
GRCh38:
Chr11:32428008-32428009
WT1T279fs, T62fsWilms tumor 1Pathogenic
(Nov 11, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr11:32449577
GRCh38:
Chr11:32428031
WT1P271fs, P54fsWilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome,
Drash syndrome, Wilms tumor 1, Frasier syndrome,
Drash syndrome
Pathogenic
(Jun 12, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr11:32449591
GRCh38:
Chr11:32428045
WT1Y266*, Y49*, Y225*, Y12*, Y261*Drash syndrome, Wilms tumor 1, Frasier syndrome,
11p partial monosomy syndrome
Pathogenic
(Oct 13, 2020)
criteria provided, single submitter
67.
GRCh37:
Chr11:32450042-32450044
GRCh38:
Chr11:32428496-32428498
WT1Hereditary cancer-predisposing syndromeLikely pathogenic
(Feb 1, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:32450128
GRCh38:
Chr11:32428582
WT1Y16*, Y233*not providedLikely pathogenic
(May 1, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr11:32450138
GRCh38:
Chr11:32428592
WT1T13fs, T230fsnot providedPathogenic
(Oct 23, 2020)
criteria provided, single submitter
70.
GRCh37:
Chr11:32450144-32450145
GRCh38:
Chr11:32428598-32428599
WT1D228fs, D11fsWilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome,
Drash syndrome
Pathogenic
(May 31, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr11:32421484-32421600
WT1Drash syndrome, Frasier syndrome, 11p partial monosomy syndrome,
Wilms tumor 1
Pathogenic
(Apr 26, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:32417793-32421600
WT1Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome,
Drash syndrome
Pathogenic
(Aug 4, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr11:32456236-32456891
WT1Wilms tumor 1, Drash syndrome, 11p partial monosomy syndrome,
Frasier syndrome
Pathogenic
(Dec 23, 2019)
criteria provided, single submitter
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