WT1 — 1309 ClinVar variants
All ClinVar germline WT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
63 Pathogenic · 12 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 98 Conflicting · 30 Benign · 19 Benign/Likely benign · 404 Likely benign · 628 Uncertain significance
Full WT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predicted LoF vs a conflicting call 5
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
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WT1 c.965+1G>A
Conflicting
Single submitter
Frasier syndrome
-
WT1 p.Ala51fs
Conflicting
Single submitter
Inborn genetic diseases
-
WT1 p.Gln264Ter
Conflicting
Single submitter
Wilms tumor 1
-
WT1 p.Ter523=
Conflicting
Single submitter
kidney disorder
-
WT1 p.Trp491Ter
Conflicting
Single submitter
Denys-Drash syndrome
All WT1 variants
Pathogenic 63
- c.1447+2T>C Multiple submitters Denys-Drash syndrome
- p.Arg374Ter Multiple submitters WT1-related disorder
- p.Arg435Ter Multiple submitters WT1-related disorder
- p.Arg439Cys Multiple submitters WT1-related disorder
- p.Arg439His Multiple submitters Frasier syndrome
- p.Arg463Ter Multiple submitters Frasier syndrome
- p.Arg500Gln Multiple submitters WT1-related disorder
- p.Cys458Arg Multiple submitters WT1-related disorder
- p.Thr279fs Multiple submitters Wilms tumor 1
- c.1114-2A>G Single submitter WT1-related disorder
- c.1447+1G>A Single submitter Frasier syndrome
- c.882_887+3del Single submitter Denys-Drash syndrome
- p.Arg375fs Single submitter Wilms tumor 1
- p.Arg467Pro Single submitter WT1-related disorder
- p.Asn246fs Single submitter Wilms tumor 1
- p.Asp228fs Single submitter Wilms tumor 1
- p.Cys428Arg Single submitter Denys-Drash syndrome
- p.Cys433Ter Single submitter Frasier syndrome
- p.Cys433Tyr Single submitter WT1-related disorder
- p.Cys458Tyr Single submitter Wilms tumor 1
- p.Gln257Ter Single submitter Denys-Drash syndrome
- p.Gln305Ter Single submitter Wilms tumor 1
- p.Gln414Ter Single submitter Denys-Drash syndrome
- p.Gln442Arg Single submitter WT1-related disorder
- p.Gln442Lys Single submitter Wilms tumor 1
- p.Gln442Ter Single submitter nephrotic syndrome, type 4
- p.Gln457_Cys458insTer Single submitter Wilms tumor 1
- p.Gln512Ter Single submitter nephrotic syndrome, type 4
- p.Glu423fs Single submitter Wilms tumor 1
- p.Gly171Val Single submitter Denys-Drash syndrome
- p.His239fs Single submitter Wilms tumor 1
- p.His446Gln Single submitter Frasier syndrome
- p.His470Tyr Single submitter Wilms tumor 1
- p.His474Gln Single submitter
- p.Leu299fs Single submitter Wilms tumor 1
- p.Leu354fs Single submitter
- p.Leu383fs Single submitter Wilms tumor 1
- p.Phe396fs Single submitter Wilms tumor 1
- p.Pro271fs Single submitter Wilms tumor 1
- p.Ser123Ter Single submitter Wilms tumor 1
- p.Ser267fs Single submitter WT1-related disorder
- p.Ser386Ter Single submitter Inborn genetic diseases
- p.Ser466Phe Single submitter Wilms tumor 1
- p.Ser76fs Single submitter Frasier syndrome
- p.Thr230fs Single submitter
- p.Thr382fs Single submitter Wilms tumor 1
- p.Trp311fs Single submitter
- p.Tyr266Ter Single submitter Denys-Drash syndrome
- p.Tyr294Ter Single submitter Wilms tumor 1
- p.Tyr300Ter Single submitter
- p.Tyr344fs Single submitter Denys-Drash syndrome
- p.Tyr344Ter Single submitter Wilms tumor
- p.Tyr359Ter Single submitter Denys-Drash syndrome
- p.Tyr426Ter Single submitter
- p.Val376fs Single submitter Wilms tumor 1
- p.Val384fs Single submitter Wilms tumor 1
- c.1447+6T>A No assertion criteria Frasier syndrome
- p.Asn298fs No assertion criteria Wilms tumor 1
- p.Cys403Tyr No assertion criteria Denys-Drash syndrome
- p.Gly365fs No assertion criteria Wilms tumor 1
- p.Phe456Leu No assertion criteria nephrotic syndrome, type 4
- p.Ser346Gly No assertion criteria mesothelioma
- p.Tyr294del No assertion criteria Wilms tumor 1
Pathogenic/Likely pathogenic 12
- c.1354+2T>C Multiple submitters WT1-related disorder
- c.1447+4C>T Multiple submitters WT1-related disorder
- c.1447+5G>A Multiple submitters WT1-related disorder
- c.1448-1G>A Multiple submitters Frasier syndrome
- p.Arg385fs Multiple submitters Wilms tumor 1
- p.Arg467Gln Multiple submitters kidney disorder
- p.Arg467Trp Multiple submitters WT1-related disorder
- p.Asp469Asn Multiple submitters WT1-related disorder
- p.Asp469Tyr Multiple submitters Denys-Drash syndrome
- p.Gln160Ter Multiple submitters Denys-Drash syndrome
- p.His450Tyr Multiple submitters Frasier syndrome
- p.Pro137fs Multiple submitters Denys-Drash syndrome
Likely pathogenic 55
- p.Arg500Trp Multiple submitters nephrotic syndrome, type 4
- p.Gln462Ter Multiple submitters nephrotic syndrome, type 4
- c.1016+1G>A Single submitter Frasier syndrome
- c.1016+2T>G Single submitter Wilms tumor 1
- c.1114-1G>T Single submitter Denys-Drash syndrome
- c.1354+4_1354+11del Single submitter Denys-Drash syndrome
- c.1447+2T>G Single submitter WT1-related disorder
- c.1447+5G>T Single submitter
- c.1448-20_1448-1del Single submitter
- c.783_784+1del Single submitter hereditary neoplastic syndrome
- c.887+1G>T Single submitter Inborn genetic diseases
- c.888-2A>G Single submitter Wilms tumor 1
- c.965+2T>C Single submitter Wilms tumor 1
- p.Ala387fs Single submitter WT1-related disorder
- p.Arg476fs Single submitter Wilms tumor 1
- p.Arg500fs Single submitter Wilms tumor 1
- p.Arg500Leu Single submitter WT1-related disorder
- p.Asp441Val Single submitter nephrotic syndrome, type 4
- p.Asp469Gly Single submitter Frasier syndrome
- p.Asp502His Single submitter nephrotic syndrome, type 4
- p.Asp502Tyr Single submitter WT1-related disorder
- p.Cys403Gly Single submitter Wilms tumor 1
- p.Cys403Phe Single submitter Leber congenital amaurosis 10
- p.Cys433Gly Single submitter Frasier syndrome
- p.Cys461Arg Single submitter WT1-related disorder
- p.Gln301Ter Single submitter Wilms tumor 1
- p.Glu423Gly Single submitter nephrotic syndrome, type 4
- p.Gly175Cys Single submitter Denys-Drash syndrome
- p.Gly422Val Single submitter
- p.Gly452Asp Single submitter Wilms tumor 1
- p.His251fs Single submitter
- p.His416fs Single submitter Wilms tumor 1
- p.His446Tyr Single submitter WT1-related disorder
- p.His474Pro Single submitter Denys-Drash syndrome
- p.His474Tyr Single submitter
- p.His478Arg Single submitter Wilms tumor 1
- p.Leu288Ter Single submitter Wilms tumor 1
- p.Leu299Ter Single submitter nephrotic syndrome, type 4
- p.Phe456Cys Single submitter nephrotic syndrome, type 4
- p.Phe465Leu Single submitter nephrotic syndrome, type 4
- p.Phe465Ser Single submitter nephrotic syndrome, type 4
- p.Pro278fs Single submitter WT1-related disorder
- p.Pro381fs Single submitter Wilms tumor 1
- p.Pro455Ser Single submitter WT1-related disorder
- p.Ser232fs Single submitter Wilms tumor 7
- p.Ser341Gly Single submitter primary ovarian failure
- p.Ser440fs Single submitter WT1-related disorder
- p.Thr363fs Single submitter WT1-related disorder
- p.Thr451Pro Single submitter
- p.Tyr233Ter Single submitter
- p.Tyr294fs Single submitter WT1-related disorder
- p.His420Pro No assertion criteria nephrotic syndrome, type 4
- p.Lys424fs No assertion criteria WT1-related disorder
- p.Ser304Phe No assertion criteria Frasier syndrome
- p.Ser483Asn No assertion criteria
Conflicting classifications of pathogenicity 98
- c.1017-11T>C Single submitter Denys-Drash syndrome
- c.1017-15T>C Single submitter Denys-Drash syndrome
- c.1017-9T>C Single submitter Inborn genetic diseases
- c.1265-16_1265-15del Single submitter Frasier syndrome
- c.1354+5G>A Single submitter
- c.1355-6_1355-5del Single submitter Inborn genetic diseases
- c.1448-13A>G Single submitter Wilms tumor 1
- c.1448-13A>T Single submitter Frasier syndrome
- c.1448-7T>C Single submitter hereditary neoplastic syndrome
- c.662-5C>T Single submitter WAGR syndrome
- c.662-6C>A Single submitter Inborn genetic diseases
- c.784+6C>T Single submitter Frasier syndrome
- c.785-7T>G Single submitter Denys-Drash syndrome
- c.887+19C>G Single submitter Frasier syndrome
- c.887+4G>A Single submitter Meacham syndrome
- c.888-5A>C Single submitter Wilms tumor 1
- c.965+1G>A Single submitter Frasier syndrome ⚠
- c.966-3T>C Single submitter Denys-Drash syndrome
- c.966-4del Single submitter Wilms tumor 1
- c.*12C>T Single submitter nephrotic syndrome, type 4
- c.*534C>T Single submitter nephrotic syndrome, type 4
- p.Ala128= Single submitter Denys-Drash syndrome
- p.Ala132Ser Single submitter Wilms tumor 1
- p.Ala325Thr Single submitter Wilms tumor 1
- p.Ala51fs Single submitter Inborn genetic diseases ⚠
- p.Ala521Val Single submitter Denys-Drash syndrome
- p.Arg24His Single submitter Denys-Drash syndrome
- p.Arg368Ser Single submitter WT1-related disorder
- p.Arg375His Single submitter Wilms tumor 1
- p.Arg385Gln Single submitter Inborn genetic diseases
- p.Arg39Gln Single submitter Denys-Drash syndrome
- p.Arg463Gln Single submitter WT1-related disorder
- p.Arg463Pro Single submitter acute myeloid leukemia
- p.Arg61Gly Single submitter Denys-Drash syndrome
- p.Asn298Asp Single submitter Denys-Drash syndrome
- p.Asp502Gly Single submitter Wilms tumor 1
- p.Cys210Gly Single submitter nephrotic syndrome, type 4
- p.Cys275Trp Single submitter Frasier syndrome
- p.Cys355Arg Single submitter Hereditary cancer
- p.Gln264Ter Single submitter Wilms tumor 1 ⚠
- p.Gln427= Single submitter Inborn genetic diseases
- p.Gln59Arg Single submitter Wilms tumor 1
- p.Gln73Leu Single submitter Wilms tumor 1
- p.Gly125Asp Single submitter Inborn genetic diseases
- p.Gly171= Single submitter Wilms tumor 1
- p.Gly196Ser Single submitter Denys-Drash syndrome
- p.Gly262Asp Single submitter hereditary neoplastic syndrome
- p.Gly26Arg Single submitter Frasier syndrome
- p.Gly326= Single submitter Inborn genetic diseases
- p.Gly326Ala Single submitter Frasier syndrome
- p.Gly37Ala Single submitter Inborn genetic diseases
- p.Gly37Arg Single submitter Inborn genetic diseases
- p.Gly42Ser Single submitter Inborn genetic diseases
- p.Gly480= Single submitter WT1-related disorder
- p.Gly65Arg Single submitter Frasier syndrome
- p.Gly75Ser Single submitter Denys-Drash syndrome
- p.His340= Single submitter nephrotic syndrome, type 4
- p.His450Arg Single submitter
- p.His478= Single submitter Frasier syndrome
- p.Ile353= Single submitter Wilms tumor 1
- p.Leu520Pro Single submitter Inborn genetic diseases
- p.Lys332= Single submitter Frasier syndrome
- p.Lys332Asn Single submitter Meacham syndrome
- p.Lys459Arg Single submitter Wilms tumor 1
- p.Met255Lys Single submitter Inborn genetic diseases
- p.Met309Val Single submitter Wilms tumor 1
- p.Met415Lys Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
- p.Pro115His Single submitter Frasier syndrome
- p.Pro115Ser Single submitter Inborn genetic diseases
- p.Pro136Thr Single submitter Wilms tumor 1
- p.Pro245Ser Single submitter Frasier syndrome
- p.Pro254Ser Single submitter Frasier syndrome
- p.Pro269Arg Single submitter Inborn genetic diseases
- p.Pro278Ala Single submitter Wilms tumor 1
- p.Pro377= Single submitter Inborn genetic diseases
- p.Pro381Ser Single submitter Wilms tumor 1
- p.Pro41Ser Single submitter Wilms tumor 1
- p.Pro9Arg Single submitter Inborn genetic diseases
- p.Pro9Leu Single submitter Denys-Drash syndrome
- p.Ser232= Single submitter Inborn genetic diseases
- p.Ser232Thr Single submitter Meacham syndrome
- p.Ser327Asn Single submitter Inborn genetic diseases
- p.Ser338Asn Single submitter Inborn genetic diseases
- p.Ser341Asn Single submitter Frasier syndrome
- p.Ser488Asn Single submitter Denys-Drash syndrome
- p.Ser54Arg Single submitter Frasier syndrome
- p.Ter523= Single submitter kidney disorder ⚠
- p.Thr12Pro Single submitter Inborn genetic diseases
- p.Thr226Asn Single submitter Wilms tumor 1
- p.Thr279= Single submitter Frasier syndrome
- p.Trp491Ter Single submitter Denys-Drash syndrome ⚠
- p.Tyr400= Single submitter nephrotic syndrome, type 4
- p.Tyr400His Single submitter Wilms tumor 1
- p.Val225Ala Single submitter Denys-Drash syndrome
- p.Val323Ala Single submitter Inborn genetic diseases
- p.Val373Met Single submitter WAGR syndrome
- p.Val384Ile Single submitter Frasier syndrome
- p.Thr479= No assertion criteria disorder of sexual differentiation
Benign 30
- c.1016+122A>C Multiple submitters
- c.1016+134C>T Multiple submitters
- c.1264+134T>A Multiple submitters
- c.1264+277T>G Multiple submitters
- c.1265-32C>A Multiple submitters Meacham syndrome
- c.1448-49T>C Multiple submitters nephrotic syndrome, type 4
- c.785-195C>A Multiple submitters
- c.785-57C>T Multiple submitters
- c.887+228C>G Multiple submitters
- c.887+82G>T Multiple submitters
- c.887+85G>C Multiple submitters
- c.965+122A>G Multiple submitters
- c.965+85A>G Multiple submitters
- c.*224A>G Multiple submitters Denys-Drash syndrome
- c.*267G>C Multiple submitters Denys-Drash syndrome
- c.*602A>G Multiple submitters nephrotic syndrome, type 4
- c.*88A>G Multiple submitters Denys-Drash syndrome
- p.Arg374= Multiple submitters Wilms tumor 1
- p.Gln358= Multiple submitters Inborn genetic diseases
- c.1016+164A>T Single submitter
- c.1016+195T>G Single submitter
- c.1017-12T>G Single submitter Denys-Drash syndrome
- c.1017-20dup Single submitter Frasier syndrome
- c.1113+221G>A Single submitter
- c.1265-218dup Single submitter
- c.662-80dup Single submitter
- c.888-8dup Single submitter Denys-Drash syndrome
- c.965+14T>C Single submitter Denys-Drash syndrome
- c.*820G>C Single submitter Meacham syndrome
- c.1265-52G>T No assertion criteria Denys-Drash syndrome
Benign/Likely benign 19
- c.1114-9T>C Multiple submitters Frasier syndrome
- c.1448-10G>A Multiple submitters Wilms tumor 1
- c.785-20G>T Multiple submitters Meacham syndrome
- c.887+14G>A Multiple submitters nephrotic syndrome, type 4
- c.887+16G>A Multiple submitters Meacham syndrome
- c.*1132A>T Multiple submitters Meacham syndrome
- c.*16G>T Multiple submitters nephrotic syndrome, type 4
- c.*835A>G Multiple submitters nephrotic syndrome, type 4
- p.Arg61= Multiple submitters Frasier syndrome
- p.Glu263= Multiple submitters Frasier syndrome
- p.Pro254Thr Multiple submitters Denys-Drash syndrome
- p.Ser285Asn Multiple submitters Denys-Drash syndrome
- c.*1098C>T Single submitter nephrotic syndrome, type 4
- c.*1209A>G Single submitter nephrotic syndrome, type 4
- c.*1239T>A Single submitter nephrotic syndrome, type 4
- c.*345G>A Single submitter Meacham syndrome
- c.*864T>A Single submitter Meacham syndrome
- c.*864T>G Single submitter Meacham syndrome
- c.*903G>A Single submitter Meacham syndrome
Likely benign 404
Showing the top 300 by review status; the full set is in the sitemap.
- c.1016+15C>T Multiple submitters Wilms tumor 1
- c.1016+81C>T Multiple submitters
- c.1017-19C>T Multiple submitters Denys-Drash syndrome
- c.1017-4G>C Multiple submitters Frasier syndrome
- c.1113+13_1113+16del Multiple submitters Frasier syndrome
- c.1113+20C>T Multiple submitters Denys-Drash syndrome
- c.1114-14CT[2] Multiple submitters Denys-Drash syndrome
- c.1114-160G>A Multiple submitters
- c.1114-8G>T Multiple submitters Wilms tumor 1
- c.1264+12C>T Multiple submitters Denys-Drash syndrome
- c.1264+13G>A Multiple submitters Wilms tumor 1
- c.1264+19C>T Multiple submitters Frasier syndrome
- c.1265-4C>T Multiple submitters Wilms tumor 1
- c.1354+9G>A Multiple submitters Wilms tumor 1
- c.1355-6A>T Multiple submitters Frasier syndrome
- c.1355-87G>A Multiple submitters
- c.1447+16_1447+18del Multiple submitters Wilms tumor 1
- c.1448-10G>T Multiple submitters Frasier syndrome
- c.662-10G>T Multiple submitters Wilms tumor 1
- c.662-13G>A Multiple submitters Denys-Drash syndrome
- c.662-4G>T Multiple submitters Denys-Drash syndrome
- c.785-14G>C Multiple submitters Wilms tumor 1
- c.785-14G>T Multiple submitters Denys-Drash syndrome
- c.785-15C>T Multiple submitters Wilms tumor 1
- c.888-16G>C Multiple submitters Wilms tumor 1
- c.888-98G>A Multiple submitters
- c.966-15CTT[2] Multiple submitters Wilms tumor 1
- p.Ala104= Multiple submitters Inborn genetic diseases
- p.Ala114= Multiple submitters Inborn genetic diseases
- p.Ala242= Multiple submitters WAGR syndrome
- p.Ala357= Multiple submitters Frasier syndrome
- p.Ala380= Multiple submitters Inborn genetic diseases
- p.Ala387= Multiple submitters Denys-Drash syndrome
- p.Ala521= Multiple submitters Inborn genetic diseases
- p.Ala53= Multiple submitters Wilms tumor 1
- p.Ala66= Multiple submitters Denys-Drash syndrome
- p.Ala87= Multiple submitters Inborn genetic diseases
- p.Ala87Thr Multiple submitters Inborn genetic diseases
- p.Arg199= Multiple submitters Denys-Drash syndrome
- p.Arg394= Multiple submitters Wilms tumor 1
- p.Arg79= Multiple submitters Denys-Drash syndrome
- p.Asn315= Multiple submitters Frasier syndrome
- p.Asn348= Multiple submitters Inborn genetic diseases
- p.Asn82= Multiple submitters Inborn genetic diseases
- p.Asp347= Multiple submitters Denys-Drash syndrome
- p.Asp372= Multiple submitters Wilms tumor 1
- p.Asp429= Multiple submitters Wilms tumor 1
- p.Cys275= Multiple submitters Wilms tumor 1
- p.Cys282= Multiple submitters Frasier syndrome
- p.Gln313= Multiple submitters Inborn genetic diseases
- p.Gln457= Multiple submitters Denys-Drash syndrome
- p.Gln519= Multiple submitters Wilms tumor 1
- p.Gln73= Multiple submitters Wilms tumor 1
- p.Glu158= Multiple submitters Inborn genetic diseases
- p.Glu252= Multiple submitters Wilms tumor 1
- p.Glu345= Multiple submitters Inborn genetic diseases
- p.Glu423= Multiple submitters Wilms tumor 1
- p.Glu434= Multiple submitters Inborn genetic diseases
- p.Gly183= Multiple submitters Frasier syndrome
- p.Gly229= Multiple submitters WAGR syndrome
- p.Gly259= Multiple submitters Wilms tumor 1
- p.Gly284= Multiple submitters Inborn genetic diseases
- p.Gly317= Multiple submitters Wilms tumor 1
- p.Gly343= Multiple submitters Inborn genetic diseases
- p.Gly65= Multiple submitters Inborn genetic diseases
- p.His235= Multiple submitters Frasier syndrome
- p.His247= Multiple submitters Frasier syndrome
- p.His276= Multiple submitters Wilms tumor 1
- p.His364= Multiple submitters Denys-Drash syndrome
- p.His450= Multiple submitters Denys-Drash syndrome
- p.His470= Multiple submitters Frasier syndrome
- p.Leu207= Multiple submitters Inborn genetic diseases
- p.Leu211= Multiple submitters Inborn genetic diseases
- p.Leu410= Multiple submitters Denys-Drash syndrome
- p.Leu443= Multiple submitters Denys-Drash syndrome
- p.Leu518= Multiple submitters Denys-Drash syndrome
- p.Leu99= Multiple submitters Inborn genetic diseases
- p.Lys250= Multiple submitters Inborn genetic diseases
- p.Lys405= Multiple submitters Denys-Drash syndrome
- p.Lys409= Multiple submitters Wilms tumor 1
- p.Lys444= Multiple submitters Denys-Drash syndrome
- p.Lys496= Multiple submitters Wilms tumor 1
- p.Lys517= Multiple submitters Wilms tumor 1
- p.Phe144= Multiple submitters Inborn genetic diseases
- p.Phe465= Multiple submitters Inborn genetic diseases
- p.Pro127= Multiple submitters Inborn genetic diseases
- p.Pro134= Multiple submitters Wilms tumor 1
- p.Pro15= Multiple submitters Wilms tumor 1
- p.Pro156= Multiple submitters Wilms tumor 1
- p.Pro215= Multiple submitters Frasier syndrome
- p.Pro231= Multiple submitters Inborn genetic diseases
- p.Pro237= Multiple submitters Wilms tumor 1
- p.Pro269= Multiple submitters Wilms tumor 1
- p.Pro270= Multiple submitters Frasier syndrome
- p.Pro293= Multiple submitters Wilms tumor 1
- p.Pro33= Multiple submitters Wilms tumor 1
- p.Pro352= Multiple submitters Wilms tumor 1
- p.Pro381= Multiple submitters Inborn genetic diseases
- p.Pro425= Multiple submitters hereditary neoplastic syndrome
- p.Pro486= Multiple submitters Inborn genetic diseases
- p.Pro492= Multiple submitters Wilms tumor 1
- p.Pro89= Multiple submitters Inborn genetic diseases
- p.Ser143= Multiple submitters Wilms tumor 1
- p.Ser163= Multiple submitters Wilms tumor 1
- p.Ser209= Multiple submitters Frasier syndrome
- p.Ser238= Multiple submitters Wilms tumor 1
- p.Ser25= Multiple submitters Denys-Drash syndrome
- p.Ser260= Multiple submitters Inborn genetic diseases
- p.Ser267= Multiple submitters Frasier syndrome
- p.Ser285= Multiple submitters Denys-Drash syndrome
- p.Ser327= Multiple submitters Frasier syndrome
- p.Ser346= Multiple submitters Wilms tumor 1
- p.Ser440= Multiple submitters Inborn genetic diseases
- p.Ser468= Multiple submitters Frasier syndrome
- p.Ser493= Multiple submitters Wilms tumor 1
- p.Ser67= Multiple submitters Frasier syndrome
- p.Thr12= Multiple submitters Denys-Drash syndrome
- p.Thr166= Multiple submitters Wilms tumor 1
- p.Thr224= Multiple submitters Frasier syndrome
- p.Thr226= Multiple submitters Inborn genetic diseases
- p.Thr230= Multiple submitters Wilms tumor 1
- p.Thr236= Multiple submitters Denys-Drash syndrome
- p.Thr277= Multiple submitters Inborn genetic diseases
- p.Thr283= Multiple submitters Wilms tumor 1
- p.Thr292= Multiple submitters Wilms tumor 1
- p.Thr310= Multiple submitters Inborn genetic diseases
- p.Thr342= Multiple submitters Wilms tumor 1
- p.Thr363= Multiple submitters Wilms tumor 1
- p.Thr382= Multiple submitters Inborn genetic diseases
- p.Tyr206= Multiple submitters Wilms tumor 1
- p.Tyr222= Multiple submitters Frasier syndrome
- p.Tyr233= Multiple submitters Frasier syndrome
- p.Tyr300= Multiple submitters Wilms tumor 1
- p.Tyr344= Multiple submitters Wilms tumor 1
- p.Tyr426= Multiple submitters Wilms tumor 1
- p.Val14= Multiple submitters Wilms tumor 1
- p.Val268= Multiple submitters Wilms tumor 1
- p.Val272= Multiple submitters Denys-Drash syndrome
- p.Val384= Multiple submitters Denys-Drash syndrome
- c.1016+12A>G Single submitter Frasier syndrome
- c.1016+13T>C Single submitter Wilms tumor 1
- c.1016+14_1016+15delinsAA Single submitter Denys-Drash syndrome
- c.1016+14G>A Single submitter Wilms tumor 1
- c.1016+15C>A Single submitter Denys-Drash syndrome
- c.1016+16G>A Single submitter Wilms tumor 1
- c.1016+20A>G Single submitter Frasier syndrome
- c.1016+7G>A Single submitter Denys-Drash syndrome
- c.1016+8dup Single submitter Frasier syndrome
- c.1016+8G>A Single submitter Denys-Drash syndrome
- c.1016+9A>G Single submitter Denys-Drash syndrome
- c.1017-10G>T Single submitter Denys-Drash syndrome
- c.1017-14C>G Single submitter Wilms tumor 1
- c.1017-18C>G Single submitter Wilms tumor 1
- c.1017-19C>A Single submitter Denys-Drash syndrome
- c.1017-20T>C Single submitter Frasier syndrome
- c.1017-8G>A Single submitter Frasier syndrome
- c.1017-8G>C Single submitter Frasier syndrome
- c.1113+10C>T Single submitter Denys-Drash syndrome
- c.1113+14C>T Single submitter Frasier syndrome
- c.1113+18C>A Single submitter Wilms tumor 1
- c.1113+7A>G Single submitter Denys-Drash syndrome
- c.1113+8C>T Single submitter Denys-Drash syndrome
- c.1113+9A>C Single submitter Frasier syndrome
- c.1113+9A>G Single submitter Frasier syndrome
- c.1114-13T>C Single submitter Wilms tumor 1
- c.1114-14C>T Single submitter Frasier syndrome
- c.1114-15A>C Single submitter Frasier syndrome
- c.1114-15A>G Single submitter Wilms tumor 1
- c.1114-15A>T Single submitter Frasier syndrome
- c.1114-4G>A Single submitter Wilms tumor 1
- c.1114-6C>T Single submitter Wilms tumor 1
- c.1114-7C>A Single submitter Wilms tumor 1
- c.1114-7C>G Single submitter Frasier syndrome
- c.1264+15T>C Single submitter Frasier syndrome
- c.1264+16G>C Single submitter Denys-Drash syndrome
- c.1264+20A>T Single submitter Wilms tumor 1
- c.1264+9G>A Single submitter Wilms tumor 1
- c.1265-10C>G Single submitter Frasier syndrome
- c.1265-12G>A Single submitter Wilms tumor 1
- c.1265-12G>C Single submitter Wilms tumor 1
- c.1265-141T>G Single submitter
- c.1265-15T>C Single submitter Wilms tumor 1
- c.1265-173C>T Single submitter
- c.1265-18A>G Single submitter Frasier syndrome
- c.1265-218del Single submitter
- c.1265-249C>T Single submitter
- c.1265-6C>T Single submitter Wilms tumor 1
- c.1354+10T>C Single submitter Denys-Drash syndrome
- c.1354+12C>T Single submitter Wilms tumor 1
- c.1354+14C>T Single submitter Wilms tumor 1
- c.1354+15T>G Single submitter Frasier syndrome
- c.1354+19C>T Single submitter Wilms tumor 1
- c.1354+20A>G Single submitter Frasier syndrome
- c.1355-10G>A Single submitter Frasier syndrome
- c.1355-10G>C Single submitter Denys-Drash syndrome
- c.1355-19A>T Single submitter Denys-Drash syndrome
- c.1355-20G>C Single submitter Denys-Drash syndrome
- c.1355-24_1355-20del Single submitter Frasier syndrome
- c.1355-7C>T Single submitter Denys-Drash syndrome
- c.1355-8C>T Single submitter Wilms tumor 1
- c.1447+13_1447+14del Single submitter Wilms tumor 1
- c.1447+13T>C Single submitter Denys-Drash syndrome
- c.1447+15C>T Single submitter Denys-Drash syndrome
- c.1447+19A>G Single submitter Wilms tumor 1
- c.1447+20C>T Single submitter Wilms tumor 1
- c.1447+7A>G Single submitter Denys-Drash syndrome
- c.1448-16G>T Single submitter Wilms tumor 1
- c.1448-18T>C Single submitter Frasier syndrome
- c.1448-18T>G Single submitter Denys-Drash syndrome
- c.1448-19C>A Single submitter Frasier syndrome
- c.1448-9T>C Single submitter Wilms tumor 1
- c.661+12G>C Single submitter Denys-Drash syndrome
- c.661+14G>A Single submitter Denys-Drash syndrome
- c.661+14G>T Single submitter Wilms tumor 1
- c.661+7A>G Single submitter Wilms tumor 1
- c.661+9del Single submitter Denys-Drash syndrome
- c.661+9G>A Single submitter Denys-Drash syndrome
- c.662-11C>T Single submitter Denys-Drash syndrome
- c.662-12C>A Single submitter Frasier syndrome
- c.662-14C>T Single submitter Wilms tumor 1
- c.662-15C>T Single submitter Wilms tumor 1
- c.662-16T>A Single submitter Denys-Drash syndrome
- c.662-17C>T Single submitter Wilms tumor 1
- c.662-19C>T Single submitter Denys-Drash syndrome
- c.662-2031G>A Single submitter Denys-Drash syndrome
- c.662-211G>C Single submitter
- c.662-4G>A Single submitter Wilms tumor 1
- c.662-7C>T Single submitter Frasier syndrome
- c.662-80del Single submitter
- c.784+10C>A Single submitter Wilms tumor 1
- c.784+11G>A Single submitter Denys-Drash syndrome
- c.784+11G>C Single submitter Wilms tumor 1
- c.784+12G>C Single submitter Wilms tumor 1
- c.784+13A>G Single submitter Denys-Drash syndrome
- c.784+15C>G Single submitter Denys-Drash syndrome
- c.784+15C>T Single submitter Wilms tumor 1
- c.784+17A>G Single submitter Wilms tumor 1
- c.784+20T>C Single submitter Wilms tumor 1
- c.784+7del Single submitter Denys-Drash syndrome
- c.784+7G>C Single submitter Wilms tumor 1
- c.784+7G>T Single submitter Wilms tumor 1
- c.785-10C>T Single submitter Denys-Drash syndrome
- c.785-160T>C Single submitter
- c.785-172A>C Single submitter
- c.785-17T>G Single submitter Frasier syndrome
- c.785-19T>A Single submitter Wilms tumor 1
- c.785-20G>A Single submitter Frasier syndrome
- c.785-4G>T Single submitter Wilms tumor 1
- c.785-6C>T Single submitter Denys-Drash syndrome
- c.785-7T>C Single submitter Denys-Drash syndrome
- c.785-8C>A Single submitter Wilms tumor 1
- c.887+11G>A Single submitter Denys-Drash syndrome
- c.887+11G>T Single submitter Wilms tumor 1
- c.887+12C>T Single submitter Denys-Drash syndrome
- c.887+13T>A Single submitter Wilms tumor 1
- c.887+17C>T Single submitter Wilms tumor 1
- c.887+18T>C Single submitter WAGR syndrome
- c.887+19C>T Single submitter Wilms tumor 1
- c.887+20T>C Single submitter Denys-Drash syndrome
- c.887+229G>A Single submitter
- c.887+6_887+8dup Single submitter Wilms tumor 1
- c.887+7A>G Single submitter Denys-Drash syndrome
- c.887+9G>A Single submitter Frasier syndrome
- c.888-13G>T Single submitter Denys-Drash syndrome
- c.888-16G>A Single submitter Denys-Drash syndrome
- c.888-19C>G Single submitter Wilms tumor 1
- c.888-20T>A Single submitter Frasier syndrome
- c.888-6T>C Single submitter Frasier syndrome
- c.888-8T>C Single submitter Wilms tumor 1
- c.888-9T>A Single submitter Denys-Drash syndrome
- c.888-9T>C Single submitter Wilms tumor 1
- c.965+11C>A Single submitter Frasier syndrome
- c.965+13C>T Single submitter Frasier syndrome
- c.965+20A>C Single submitter Denys-Drash syndrome
- c.965+20A>G Single submitter Denys-Drash syndrome
- c.965+7T>C Single submitter Denys-Drash syndrome
- c.965+7T>G Single submitter Frasier syndrome
- c.966-11T>C Single submitter Wilms tumor 1
- c.966-12C>A Single submitter Wilms tumor 1
- c.966-16T>A Single submitter Frasier syndrome
- c.966-17C>T Single submitter Wilms tumor 1
- c.966-19A>T Single submitter Frasier syndrome
- c.966-20C>T Single submitter Denys-Drash syndrome
- c.966-4C>G Single submitter Denys-Drash syndrome
- c.966-8T>C Single submitter Denys-Drash syndrome
- c.966-9C>G Single submitter Wilms tumor 1
- p.Ala108= Single submitter Frasier syndrome
- p.Ala154= Single submitter Wilms tumor 1
- p.Ala204= Single submitter Wilms tumor 1
- p.Ala241= Single submitter Frasier syndrome
- p.Ala325del Single submitter Inborn genetic diseases
- p.Ala325Gly Single submitter Inborn genetic diseases
- p.Ala51= Single submitter Frasier syndrome
- p.Arg291= Single submitter Inborn genetic diseases
- p.Arg360= Single submitter Wilms tumor 1
- p.Arg375= Single submitter Inborn genetic diseases
- p.Arg385= Single submitter Wilms tumor 1
- p.Arg39= Single submitter Frasier syndrome
- p.Arg418= Single submitter Inborn genetic diseases
- p.Arg435= Single submitter Denys-Drash syndrome
Uncertain significance 628
Showing the top 300 by review status; the full set is in the sitemap.
- c.1016+4A>C Multiple submitters Inborn genetic diseases
- c.1113+5G>A Multiple submitters Inborn genetic diseases
- c.1113+5G>C Multiple submitters Inborn genetic diseases
- c.1448-3C>A Multiple submitters Frasier syndrome
- c.1448-3C>T Multiple submitters Inborn genetic diseases
- c.661+6T>C Multiple submitters Frasier syndrome
- c.785-14G>A Multiple submitters Denys-Drash syndrome
- c.888-1G>A Multiple submitters Inborn genetic diseases
- c.965+3A>G Multiple submitters Wilms tumor 1
- c.965+4A>G Multiple submitters Wilms tumor 1
- c.965+5G>A Multiple submitters Inborn genetic diseases
- c.965+6G>A Multiple submitters Frasier syndrome
- c.-140C>T Multiple submitters Meacham syndrome
- c.*2G>A Multiple submitters Wilms tumor 1
- c.*5T>C Multiple submitters nephrotic syndrome, type 4
- p.Ala105Thr Multiple submitters Frasier syndrome
- p.Ala10Ile Multiple submitters Wilms tumor 1
- p.Ala118Pro Multiple submitters Wilms tumor 1
- p.Ala177Asp Multiple submitters Wilms tumor 1
- p.Ala18Glu Multiple submitters Inborn genetic diseases
- p.Ala18Val Multiple submitters Frasier syndrome
- p.Ala193Glu Multiple submitters Denys-Drash syndrome
- p.Ala193Thr Multiple submitters Inborn genetic diseases
- p.Ala204Val Multiple submitters Frasier syndrome
- p.Ala241Thr Multiple submitters Frasier syndrome
- p.Ala241Val Multiple submitters Inborn genetic diseases
- p.Ala242Thr Multiple submitters Denys-Drash syndrome
- p.Ala242Val Multiple submitters Inborn genetic diseases
- p.Ala287Pro Multiple submitters Inborn genetic diseases
- p.Ala318Gly Multiple submitters nephrotic syndrome, type 4
- p.Ala325Ser Multiple submitters Denys-Drash syndrome
- p.Ala357Pro Multiple submitters Denys-Drash syndrome
- p.Ala357Thr Multiple submitters Wilms tumor 1
- p.Ala357Val Multiple submitters Inborn genetic diseases
- p.Ala380Asp Multiple submitters Denys-Drash syndrome
- p.Ala399Gly Multiple submitters Denys-Drash syndrome
- p.Ala50Asp Multiple submitters Denys-Drash syndrome
- p.Ala51Thr Multiple submitters Wilms tumor 1
- p.Ala521Pro Multiple submitters Inborn genetic diseases
- p.Ala66Glu Multiple submitters Denys-Drash syndrome
- p.Ala83Pro Multiple submitters Wilms tumor 1
- p.Ala83Val Multiple submitters Wilms tumor 1
- p.Arg218His Multiple submitters nephrotic syndrome, type 4
- p.Arg374Gln Multiple submitters Wilms tumor 1
- p.Arg374Trp Multiple submitters Frasier syndrome
- p.Arg375Cys Multiple submitters Frasier syndrome
- p.Arg375Leu Multiple submitters Wilms tumor 1
- p.Arg385Trp Multiple submitters Inborn genetic diseases
- p.Arg394Cys Multiple submitters Denys-Drash syndrome
- p.Arg406Ser Multiple submitters Inborn genetic diseases
- p.Arg418Met Multiple submitters Denys-Drash syndrome
- p.Arg435Gln Multiple submitters Denys-Drash syndrome
- p.Arg436Ser Multiple submitters Inborn genetic diseases
- p.Arg490Gln Multiple submitters Frasier syndrome
- p.Arg490Trp Multiple submitters Inborn genetic diseases
- p.Arg506Leu Multiple submitters Wilms tumor 1
- p.Asn246Asp Multiple submitters Wilms tumor 1
- p.Asn246Ser Multiple submitters Wilms tumor 1
- p.Asn298Ser Multiple submitters Wilms tumor 1
- p.Asn339Asp Multiple submitters Wilms tumor 1
- p.Asn339Lys Multiple submitters Frasier syndrome
- p.Asn404His Multiple submitters Wilms tumor 1
- p.Asn404Ser Multiple submitters Frasier syndrome
- p.Asn404Thr Multiple submitters Denys-Drash syndrome
- p.Asn514Ser Multiple submitters Frasier syndrome
- p.Asp347Asn Multiple submitters Denys-Drash syndrome
- p.Asp372His Multiple submitters Frasier syndrome
- p.Asp429Asn Multiple submitters Inborn genetic diseases
- p.Asp77Glu Multiple submitters Inborn genetic diseases
- p.Cys161Phe Multiple submitters Wilms tumor 1
- p.Cys180Tyr Multiple submitters Frasier syndrome
- p.Cys282Phe Multiple submitters Wilms tumor 1
- p.Cys29Tyr Multiple submitters Inborn genetic diseases
- p.Cys308Gly Multiple submitters Inborn genetic diseases
- p.Cys308Tyr Multiple submitters Wilms tumor 1
- p.Cys97Arg Multiple submitters Frasier syndrome
- p.Gln147Glu Multiple submitters Inborn genetic diseases
- p.Gln160Glu Multiple submitters Wilms tumor 1
- p.Gln192Arg Multiple submitters Inborn genetic diseases
- p.Gln197Arg Multiple submitters Denys-Drash syndrome
- p.Gln197Lys Multiple submitters Wilms tumor 1
- p.Gln214Pro Multiple submitters Wilms tumor 1
- p.Gln264Pro Multiple submitters Wilms tumor 1
- p.Gln265His Multiple submitters Inborn genetic diseases
- p.Gln31Ter Multiple submitters Inborn genetic diseases
- p.Gln32Lys Multiple submitters Denys-Drash syndrome
- p.Gln358Arg Multiple submitters Wilms tumor 1
- p.Gln371Arg Multiple submitters Frasier syndrome
- p.Gln427Pro Multiple submitters Inborn genetic diseases
- p.Gln447His Multiple submitters Inborn genetic diseases
- p.Gln462Leu Multiple submitters Denys-Drash syndrome
- p.Gln495His Multiple submitters Inborn genetic diseases
- p.Gln519Ter Multiple submitters Inborn genetic diseases
- p.Glu159Lys Multiple submitters Wilms tumor 1
- p.Glu212Asp Multiple submitters Frasier syndrome
- p.Glu345Lys Multiple submitters Denys-Drash syndrome
- p.Glu392Lys Multiple submitters Wilms tumor 1
- p.Glu52Lys Multiple submitters Wilms tumor 1
- p.Glu70Asp Multiple submitters Frasier syndrome
- p.Gly103Cys Multiple submitters Inborn genetic diseases
- p.Gly125Ser Multiple submitters Inborn genetic diseases
- p.Gly126Ala Multiple submitters Denys-Drash syndrome
- p.Gly221Asp Multiple submitters Frasier syndrome
- p.Gly221Val Multiple submitters Frasier syndrome
- p.Gly229Arg Multiple submitters Denys-Drash syndrome
- p.Gly234Arg Multiple submitters Inborn genetic diseases
- p.Gly259Asp Multiple submitters Inborn genetic diseases
- p.Gly262Arg Multiple submitters Wilms tumor 1
- p.Gly274Ser Multiple submitters Denys-Drash syndrome
- p.Gly284Ser Multiple submitters Frasier syndrome
- p.Gly317Glu Multiple submitters mixed phenotype acute leukemia with t(v;11q23.3)
- p.Gly322Glu Multiple submitters Wilms tumor 1
- p.Gly356Glu Multiple submitters Wilms tumor 1
- p.Gly365Arg Multiple submitters Wilms tumor 1
- p.Gly365Asp Multiple submitters Wilms tumor 1
- p.Gly365Ser Multiple submitters Frasier syndrome
- p.Gly365Val Multiple submitters
- p.Gly422Asp Multiple submitters nephrotic syndrome, type 4
- p.Gly43Ser Multiple submitters Denys-Drash syndrome
- p.Gly68Arg Multiple submitters Frasier syndrome
- p.Gly93Asp Multiple submitters Inborn genetic diseases
- p.Gly94Ser Multiple submitters Denys-Drash syndrome
- p.Gly95Val Multiple submitters Frasier syndrome
- p.Gly96_Cys97insGly Multiple submitters Frasier syndrome
- p.Gly96Ser Multiple submitters Inborn genetic diseases
- p.His157Gln Multiple submitters Wilms tumor 1
- p.His240Arg Multiple submitters Wilms tumor 1
- p.His240Leu Multiple submitters Denys-Drash syndrome
- p.His240Tyr Multiple submitters Wilms tumor 1
- p.His251Arg Multiple submitters Wilms tumor 1
- p.His251Leu Multiple submitters Inborn genetic diseases
- p.His362Gln Multiple submitters Wilms tumor 1
- p.His364Gln Multiple submitters Denys-Drash syndrome
- p.His508Gln Multiple submitters Wilms tumor 1
- p.Ile217Ser Multiple submitters Wilms tumor 1
- p.Ile353Asn Multiple submitters Wilms tumor 1
- p.Ile353Val Multiple submitters Wilms tumor 1
- p.Ile361Thr Multiple submitters Inborn genetic diseases
- p.Ile370Phe Multiple submitters Frasier syndrome
- p.Ile370Thr Multiple submitters Meacham syndrome
- p.Leu207Arg Multiple submitters Frasier syndrome
- p.Leu306Ile Multiple submitters Wilms tumor 1
- p.Leu316Ile Multiple submitters Frasier syndrome
- p.Leu48Ser Multiple submitters Frasier syndrome
- p.Leu58Phe Multiple submitters Inborn genetic diseases
- p.Leu58Val Multiple submitters Wilms tumor 1
- p.Leu81Met Multiple submitters Frasier syndrome
- p.Lys464Glu Multiple submitters Inborn genetic diseases
- p.Lys496Arg Multiple submitters Denys-Drash syndrome
- p.Met255Ile Multiple submitters Denys-Drash syndrome
- p.Met255Val Multiple submitters Wilms tumor 1
- p.Met302Arg Multiple submitters Frasier syndrome
- p.Met302Ile Multiple submitters Frasier syndrome
- p.Met302Lys Multiple submitters Inborn genetic diseases
- p.Met314Thr Multiple submitters Wilms tumor 1
- p.Met397Arg Multiple submitters Frasier syndrome
- p.Met397Ile Multiple submitters Frasier syndrome
- p.Met397Thr Multiple submitters Wilms tumor 1
- p.Met397Val Multiple submitters Inborn genetic diseases
- p.Met415Arg Multiple submitters Wilms tumor 1
- p.Met510Val Multiple submitters Inborn genetic diseases
- p.Met515Ile Multiple submitters Frasier syndrome
- p.Phe185Cys Multiple submitters Wilms tumor 1
- p.Phe227Ser Multiple submitters Wilms tumor 1
- p.Phe244Leu Multiple submitters Frasier syndrome
- p.Phe249Cys Multiple submitters Wilms tumor 1
- p.Phe367Cys Multiple submitters Inborn genetic diseases
- p.Pro116Leu Multiple submitters hereditary neoplastic syndrome
- p.Pro116Thr Multiple submitters Denys-Drash syndrome
- p.Pro127Arg Multiple submitters Frasier syndrome
- p.Pro127Leu Multiple submitters Wilms tumor 1
- p.Pro129Gln Multiple submitters Denys-Drash syndrome
- p.Pro131Arg Multiple submitters Inborn genetic diseases
- p.Pro131Ser Multiple submitters Denys-Drash syndrome
- p.Pro131Thr Multiple submitters Wilms tumor 1
- p.Pro134Arg Multiple submitters Inborn genetic diseases
- p.Pro135Leu Multiple submitters Inborn genetic diseases
- p.Pro135Ser Multiple submitters Wilms tumor 1
- p.Pro136_Pro141dup Multiple submitters Inborn genetic diseases
- p.Pro136Ser Multiple submitters Inborn genetic diseases
- p.Pro137Ala Multiple submitters Wilms tumor 1
- p.Pro138Gln Multiple submitters Inborn genetic diseases
- p.Pro138Ser Multiple submitters Frasier syndrome
- p.Pro139Arg Multiple submitters Inborn genetic diseases
- p.Pro139Gln Multiple submitters Frasier syndrome
- p.Pro156Leu Multiple submitters Inborn genetic diseases
- p.Pro156Ser Multiple submitters Denys-Drash syndrome
- p.Pro202Ser Multiple submitters Denys-Drash syndrome
- p.Pro231Ala Multiple submitters Wilms tumor 1
- p.Pro231Ser Multiple submitters aniridia 1
- p.Pro237Leu Multiple submitters Inborn genetic diseases
- p.Pro237Ser Multiple submitters Inborn genetic diseases
- p.Pro254Leu Multiple submitters Wilms tumor 1
- p.Pro269Leu Multiple submitters Wilms tumor 1
- p.Pro381Leu Multiple submitters Inborn genetic diseases
- p.Pro395Leu Multiple submitters Wilms tumor 1
- p.Pro395Thr Multiple submitters WT1-related disorder
- p.Pro401Leu Multiple submitters Inborn genetic diseases
- p.Pro425Arg Multiple submitters Denys-Drash syndrome
- p.Pro71Ser Multiple submitters Frasier syndrome
- p.Pro71Thr Multiple submitters Denys-Drash syndrome
- p.Pro89Leu Multiple submitters Frasier syndrome
- p.Ser102Asn Multiple submitters Denys-Drash syndrome
- p.Ser11Cys Multiple submitters Frasier syndrome
- p.Ser150Asn Multiple submitters Wilms tumor 1
- p.Ser150Ile Multiple submitters Inborn genetic diseases
- p.Ser163Arg Multiple submitters Frasier syndrome
- p.Ser194Leu Multiple submitters Frasier syndrome
- p.Ser195Ala Multiple submitters Wilms tumor 1
- p.Ser195Cys Multiple submitters Inborn genetic diseases
- p.Ser209Arg Multiple submitters Wilms tumor 1
- p.Ser260Leu Multiple submitters Wilms tumor 1
- p.Ser285Thr Multiple submitters Wilms tumor 1
- p.Ser295Asn Multiple submitters Denys-Drash syndrome
- p.Ser295Gly Multiple submitters Denys-Drash syndrome
- p.Ser329Arg Multiple submitters Frasier syndrome
- p.Ser329Gly Multiple submitters Frasier syndrome
- p.Ser330Leu Multiple submitters Inborn genetic diseases
- p.Ser346Arg Multiple submitters Inborn genetic diseases
- p.Ser386Leu Multiple submitters Wilms tumor 1
- p.Ser388Cys Multiple submitters Inborn genetic diseases
- p.Ser388Pro Multiple submitters Frasier syndrome
- p.Ser391Arg Multiple submitters Denys-Drash syndrome
- p.Ser417Asn Multiple submitters Wilms tumor 1
- p.Ser417Gly Multiple submitters Frasier syndrome
- p.Ser493Asn Multiple submitters Denys-Drash syndrome
- p.Ser493Gly Multiple submitters Denys-Drash syndrome
- p.Ser63Arg Multiple submitters Inborn genetic diseases
- p.Thr166Ala Multiple submitters Inborn genetic diseases
- p.Thr224Met Multiple submitters Denys-Drash syndrome
- p.Thr224Ser Multiple submitters Wilms tumor 1
- p.Thr226Ile Multiple submitters Frasier syndrome
- p.Thr230Arg Multiple submitters Frasier syndrome
- p.Thr230Met Multiple submitters Wilms tumor 1
- p.Thr277Asn Multiple submitters Inborn genetic diseases
- p.Thr277Ile Multiple submitters Wilms tumor 1
- p.Thr279Ile Multiple submitters Inborn genetic diseases
- p.Thr283Ile Multiple submitters Denys-Drash syndrome
- p.Thr283Ser Multiple submitters Wilms tumor 1
- p.Thr292Lys Multiple submitters Frasier syndrome
- p.Thr303Ala Multiple submitters Wilms tumor 1
- p.Thr319Ala Multiple submitters Frasier syndrome
- p.Thr319Asn Multiple submitters Wilms tumor 1
- p.Thr342Ser Multiple submitters Inborn genetic diseases
- p.Thr350Arg Multiple submitters Frasier syndrome
- p.Thr350Ile Multiple submitters Inborn genetic diseases
- p.Thr351Lys Multiple submitters Inborn genetic diseases
- p.Thr351Met Multiple submitters Denys-Drash syndrome
- p.Thr363Lys Multiple submitters Frasier syndrome
- p.Thr363Ser Multiple submitters Inborn genetic diseases
- p.Thr382Ala Multiple submitters Wilms tumor 1
- p.Thr390Ala Multiple submitters Denys-Drash syndrome
- p.Thr421Ala Multiple submitters nephrotic syndrome, type 4
- p.Thr421Ser Multiple submitters Frasier syndrome
- p.Thr460Ile Multiple submitters Frasier syndrome
- p.Thr475Ile Multiple submitters Wilms tumor 1
- p.Trp333Arg Multiple submitters Frasier syndrome
- p.Trp45Arg Multiple submitters Wilms tumor 1
- p.Trp45Gly Multiple submitters Inborn genetic diseases
- p.Tyr121His Multiple submitters Wilms tumor 1
- p.Tyr206Phe Multiple submitters Wilms tumor 1
- p.Tyr233Cys Multiple submitters Inborn genetic diseases
- p.Tyr266His Multiple submitters Inborn genetic diseases
- p.Tyr300His Multiple submitters Inborn genetic diseases
- p.Tyr344Phe Multiple submitters Inborn genetic diseases
- p.Tyr359Cys Multiple submitters
- p.Val167Ile Multiple submitters Wilms tumor 1
- p.Val268Gly Multiple submitters Inborn genetic diseases
- p.Val272Ala Multiple submitters Frasier syndrome
- p.Val331Ala Multiple submitters Wilms tumor 1
- p.Val366Ile Multiple submitters Inborn genetic diseases
- p.Val376Ala Multiple submitters Wilms tumor 1
- p.Val379Ile Multiple submitters Wilms tumor 1
- p.Val505Leu Multiple submitters Denys-Drash syndrome
- c.1016+6T>C Single submitter Frasier syndrome
- c.1017-1G>A Single submitter Wilms tumor 1
- c.1017-2A>G Single submitter Frasier syndrome
- c.1017-3C>T Single submitter Wilms tumor 1
- c.1113+3G>A Single submitter Denys-Drash syndrome
- c.1114-3C>A Single submitter
- c.1264+3A>G Single submitter Wilms tumor 1
- c.1264+5G>C Single submitter Wilms tumor 1
- c.1264+6T>A Single submitter Denys-Drash syndrome
- c.1265-3A>G Single submitter Inborn genetic diseases
- c.1265-3A>T Single submitter Inborn genetic diseases
- c.1265-5C>T Single submitter Inborn genetic diseases
- c.1354+5_1354+6del Single submitter
- c.1447+3G>A Single submitter Wilms tumor 1
- c.1447+4C>A Single submitter Wilms tumor 1
- c.1447+4C>G Single submitter nephrotic syndrome, type 4
- c.1448-2A>G Single submitter Wilms tumor 1
- c.1448-4A>G Single submitter Wilms tumor 1
- c.1448-6C>G Single submitter Frasier syndrome
- c.661+3A>G Single submitter Denys-Drash syndrome
- c.662-1917del Single submitter Denys-Drash syndrome
- c.662-3C>T Single submitter Wilms tumor 1
- c.784+1G>A Single submitter Inborn genetic diseases
- c.784+3_784+4insCCC Single submitter hereditary neoplastic syndrome
- c.784+5G>A Single submitter Wilms tumor 1
- c.785-3C>T Single submitter Denys-Drash syndrome