| - GRCh37:
- Chr11:32410639
- GRCh38:
- Chr11:32389093
| WT1 | Q116*, Q278*, Q292*, Q492*, Q509*, Q512*, Q464*, Q454*, Q465*, Q490*, Q495*, Q507*, Q258*, Q468*, Q481* | Nephrotic syndrome, type 4 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr11:32410674
- GRCh38:
- Chr11:32389128
| WT1 | R480Q, R497Q, R280Q, R104Q, R266Q, R500Q, R442Q, R483Q, R495Q, R452Q, R453Q, R456Q, R469Q, R246Q, R478Q | Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome | Pathogenic (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32410725
- GRCh38:
- Chr11:32389179
| WT1 | G263D, S483N, G463D, S249N, S87N, G480D, S461N, S466N, G452D, G478D, S436N, G439D, S229N, G435D, S425N | not provided | Likely pathogenic (Sep 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:32410726-32410745
- GRCh38:
- Chr11:32389180-32389199
| WT1 | | not provided | Likely pathogenic (Jul 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32413512
- GRCh38:
- Chr11:32391966
| WT1 | | Frasier syndrome | Pathogenic (Dec 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr11:32413513
- GRCh38:
- Chr11:32391967
| WT1 | | Wilms 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 |
| - GRCh37:
- Chr11:32413514
- GRCh38:
- Chr11:32391968
| WT1 | | Wilms 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 |
| - GRCh37:
- Chr11:32413516
- GRCh38:
- Chr11:32391970
| WT1 | | Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome | Likely pathogenic (Jun 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32413544
- GRCh38:
- Chr11:32391998
| WT1 | H257P, H474P, H240P, H457P, H78P, H427P, H220P, H433P, H472P, H416P, H452P | Drash syndrome | Likely pathogenic (Mar 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32413545
- GRCh38:
- Chr11:32391999
| WT1 | H240Y, H257Y, H457Y, H474Y, H78Y, H220Y, H416Y, H427Y, H452Y, H433Y, H469Y, H472Y | not provided | Likely pathogenic (Jun 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32413559
- GRCh38:
- Chr11:32392013
| WT1 | D252G, D452G, D469G, D73G, D235G, D428G, D215G, D422G, D467G, D411G | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome | Likely pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32413560
- GRCh38:
- Chr11:32392014
| WT1 | D252Y, D452Y, D469Y, D235Y, D73Y, D411Y, D447Y, D215Y, D422Y, D428Y, D467Y | Drash syndrome, Nephrotic syndrome, type 4 | Likely pathogenic (Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32413560
- GRCh38:
- Chr11:32392014
| WT1 | D252N, D452N, D469N, D235N, D73N, D215N, D428N, D411N, D422N, D467N | Nephrotic syndrome, type 4 | Pathogenic (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32413565
- GRCh38:
- Chr11:32392019
| WT1 | R250Q, R467Q, R450Q, R71Q, R233Q, R213Q, R465Q, R409Q, R420Q, R445Q, R426Q | Frasier 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 |
| - GRCh37:
- Chr11:32413565
- GRCh38:
- Chr11:32392019
| WT1 | R250P, R450P, R467P, R71P, R233P, R213P, R420P, R426P, R409P, R465P | Drash syndrome | Pathogenic (May 1, 1992) | no assertion criteria provided |
| - GRCh37:
- Chr11:32413566
- GRCh38:
- Chr11:32392020
| WT1 | R250W, R467W, R233W, R450W, R71W, R465W, R213W, R409W, R420W, R426W | Drash 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 |
| - GRCh37:
- Chr11:32413572
- GRCh38:
- Chr11:32392026
| WT1 | F248L, F231L, F448L, F465L, F69L, F211L, F407L, F418L, F424L, F463L | Frasier syndrome | Pathogenic (Jan 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr11:32413578
- GRCh38:
- Chr11:32392032
| WT1 | R246*, 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 |
| - GRCh37:
- Chr11:32413593
- GRCh38:
- Chr11:32392047
| WT1 | C400R, C436R, C411R, C241R, C441R, C458R, C204R, C224R, C417R, C453R, C456R, C62R | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome | Pathogenic (May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32413599
- GRCh38:
- Chr11:32392053
| WT1 | F239L, F439L, F456L, F222L, F60L, F398L, F415L, F409L, F454L, F202L | Nephrotic syndrome, type 4 | Pathogenic (Apr 1, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr11:32414201-32414208
- GRCh38:
- Chr11:32392655-32392662
| WT1 | | Drash syndrome | Likely pathogenic (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32414215
- GRCh38:
- Chr11:32392669
| WT1 | T234P, T55P, T217P, T434P, T451P, T393P, T410P, T429P, T197P, T449P | not provided | Likely pathogenic (Nov 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32414218
- GRCh38:
- Chr11:32392672
| WT1 | H233Y, H216Y, H450Y, H433Y, H54Y, H196Y, H392Y, H409Y, H448Y | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome, Drash syndrome | Pathogenic/Likely pathogenic (Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:32414228
- GRCh38:
- Chr11:32392682
| WT1 | H429Q, H229Q, H212Q, H446Q, H50Q, H424Q, H192Q, H405Q, H444Q, H388Q, H441Q | Drash syndrome, Frasier syndrome, Wilms tumor 1, Drash syndrome, 11p partial monosomy syndrome, Frasier syndrome
| Pathogenic (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:32414228
- GRCh38:
- Chr11:32392682
| WT1 | H229Q, H429Q, H212Q, H446Q, H50Q, H444Q, H192Q, H388Q, H405Q | Drash syndrome | Pathogenic (Oct 18, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr11:32414244
- GRCh38:
- Chr11:32392698
| WT1 | D187V, D207V, D224V, D383V, D400V, D419V, D424V, D436V, D439V, D441V, D45V | Nephrotic syndrome, type 4 | Likely pathogenic (Jan 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32414250
- GRCh38:
- Chr11:32392704
| WT1 | R222H, R422H, R439H, R205H, R43H, R398H, R437H, R185H, R381H | Wilms 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 |
| - GRCh37:
- Chr11:32414251
- GRCh38:
- Chr11:32392705
| WT1 | R222C, R422C, R205C, R439C, R43C, R381C, R398C, R185C, R437C | not provided | Pathogenic (Jun 18, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:32414263
- GRCh38:
- Chr11:32392717
| WT1 | R218*, 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 |
| - GRCh37:
- Chr11:32414267
- GRCh38:
- Chr11:32392721
| WT1 | C216*, 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 |
| - GRCh37:
- Chr11:32414269
- GRCh38:
- Chr11:32392723
| WT1 | C216G, C199G, C37G, C433G, C416G, C179G, C392G, C431G, C375G | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome | Likely pathogenic (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32414285
- GRCh38:
- Chr11:32392739
| WT1 | Q427H, Q193H, Q410H, Q210H, Q31H, Q405H, Q173H, Q386H, Q425H, Q369H, Q422H | Nephrotic range proteinuria | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:32414301
- GRCh38:
- Chr11:32392755
| WT1 | G205V, G422V, G405V, G188V, G26V, G364V, G420V, G400V, G168V, G381V | Familial idiopathic steroid-resistant nephrotic syndrome | Likely pathogenic (Oct 22, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32417797-32439206
- GRCh38:
- Chr11:32396251-32417660
| WT1 | | Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome | Pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32417808
- GRCh38:
- Chr11:32396262
| WT1 | H203P, H420P, H403P, H186P, H24P, H166P, H418P, H362P, H379P, H398P | Nephrotic syndrome, type 4 | Likely pathogenic (Sep 18, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:32417821-32417822
- GRCh38:
- Chr11:32396275-32396276
| WT1 | H182fs, H199fs, H20fs, H399fs, H416fs | Wilms tumor 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr11:32417827
- GRCh38:
- Chr11:32396281
| WT1 | Q18*, 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 |
| - GRCh37:
- Chr11:32417859
- GRCh38:
- Chr11:32396313
| WT1 | C186Y, C169Y, C386Y, C403Y, C7Y, C362Y, C401Y, C149Y, C345Y | Drash syndrome | Pathogenic (May 1, 1992) | no assertion criteria provided |
| - GRCh37:
- Chr11:32417860
- GRCh38:
- Chr11:32396314
| WT1 | C149G, C169G, C186G, C345G, C362G, C381G, C386G, C398G, C401G, C403G, C7G | Wilms tumor 1 | Likely pathogenic (Dec 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32417909-32417910
- GRCh38:
- Chr11:32396363-32396364
| WT1 | A153fs, A170fs, A387fs, A370fs | Acute myeloid leukemia | Likely pathogenic (Oct 2, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr11:32417918
- GRCh38:
- Chr11:32396372
| WT1 | V384fs, V150fs, V167fs, V367fs | Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome | Pathogenic (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32417925
- GRCh38:
- Chr11:32396379
| WT1 | P147fs, P164fs, P364fs, P381fs | Wilms tumor 1 | Likely pathogenic (Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32417945-32417946
- GRCh38:
- Chr11:32396399-32396400
| WT1 | R141fs, R358fs, R375fs, R158fs | Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome | Pathogenic (Jul 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32417947
- GRCh38:
- Chr11:32396401
| WT1 | R157*, 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 |
| - GRCh37:
- Chr11:32417953
- GRCh38:
- Chr11:32396407
| WT1 | | Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome | Pathogenic (Apr 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32417954
- GRCh38:
- Chr11:32396408
| WT1 | | Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome | Likely pathogenic (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32421513
- GRCh38:
- Chr11:32399967
| WT1 | G131fs, G148fs, G348fs, G365fs | Wilms tumor 1 | Pathogenic (Oct 3, 1991) | no assertion criteria provided |
| - GRCh37:
- Chr11:32421530
- GRCh38:
- Chr11:32399984
| WT1 | Y354*, 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 |
| - GRCh37:
- Chr11:32421546
- GRCh38:
- Chr11:32400000
| WT1 | L120fs, L137fs, L337fs, L354fs | not provided | Pathogenic (Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32421571
- GRCh38:
- Chr11:32400025
| WT1 | S129G, S329G, S112G, S346G, S305G, S92G, S288G, S344G | Mesothelioma | Pathogenic (Dec 1, 1993) | no assertion criteria provided |
| - GRCh37:
- Chr11:32421586
- GRCh38:
- Chr11:32400040
| WT1 | S107G, S124G, S324G, S341G, S300G, S319G, S283G, S336G, S87G | Premature ovarian failure | Likely pathogenic (Mar 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32438034
- GRCh38:
- Chr11:32416488
| WT1 | | Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome, Drash syndrome | Likely pathogenic (Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32438035
- GRCh38:
- Chr11:32416489
| WT1 | | Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome, Drash syndrome | Likely pathogenic (Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32438069
- GRCh38:
- Chr11:32416523
| WT1 | S111F, S328F, S287F, S323F, S74F | Disorder of sexual differentiation | Likely pathogenic (Aug 17, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr11:32439122
- GRCh38:
- Chr11:32417576
| WT1 | | Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, not provided | Pathogenic/Likely pathogenic (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:32439175
- GRCh38:
- Chr11:32417629
| WT1 | Q305*, Q51*, Q264*, Q88*, Q300* | Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome | Pathogenic (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32439177
- GRCh38:
- Chr11:32417631
| WT1 | S87F, S304F, S263F, S50F | Frasier syndrome | Likely pathogenic (Jul 18, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:32439179-32439195
- GRCh38:
- Chr11:32417633-32417649
| WT1 | N81fs, N298fs | Wilms tumor 1 | Pathogenic (Oct 3, 1991) | no assertion criteria provided |
| - GRCh37:
- Chr11:32439188
- GRCh38:
- Chr11:32417642
| WT1 | Y300*, Y83*, Y259*, Y295*, Y46* | not provided | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32439191
- GRCh38:
- Chr11:32417645
| WT1 | L299fs, L82fs | Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome | Pathogenic (Nov 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32449499-32449507
- GRCh38:
- Chr11:32427953-32427961
| WT1 | | Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome, Drash syndrome | Likely pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32449507
- GRCh38:
- Chr11:32427961
| WT1 | Y294*, Y77*, Y253*, Y289*, Y40* | Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome | Pathogenic (Dec 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32449507-32449509
- GRCh38:
- Chr11:32427961-32427963
| WT1 | Y77del, Y294del, Y40del, Y253del | Wilms tumor 1 | Pathogenic (Mar 23, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr11:32449554-32449555
- GRCh38:
- Chr11:32428008-32428009
| WT1 | T279fs, T62fs | Wilms tumor 1 | Pathogenic (Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32449577
- GRCh38:
- Chr11:32428031
| WT1 | P271fs, P54fs | Wilms 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 |
| - GRCh37:
- Chr11:32449591
- GRCh38:
- Chr11:32428045
| WT1 | Y266*, Y49*, Y225*, Y12*, Y261* | Drash syndrome, Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome | Pathogenic (Oct 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32450042-32450044
- GRCh38:
- Chr11:32428496-32428498
| WT1 | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32450128
- GRCh38:
- Chr11:32428582
| WT1 | Y16*, Y233* | not provided | Likely pathogenic (May 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32450138
- GRCh38:
- Chr11:32428592
| WT1 | T13fs, T230fs | not provided | Pathogenic (Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32450144-32450145
- GRCh38:
- Chr11:32428598-32428599
| WT1 | D228fs, D11fs | Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome | Pathogenic (May 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32421484-32421600
| WT1 | | Drash syndrome, Frasier syndrome, 11p partial monosomy syndrome, Wilms tumor 1 | Pathogenic (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32417793-32421600
| WT1 | | Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome | Pathogenic (Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32456236-32456891
| WT1 | | Wilms tumor 1, Drash syndrome, 11p partial monosomy syndrome, Frasier syndrome | Pathogenic (Dec 23, 2019) | criteria provided, single submitter |