NM_024426.6(WT1):c.240C>G (p.Asp80Glu) |
single nucleotide variant |
Drash syndrome [RCV001997227]|Drash syndrome [RCV003464281]|Wilms tumor 1 [RCV004010978] |
Chr11:32435121 [GRCh38] Chr11:32456667 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.662-2299A>C |
single nucleotide variant |
not provided [RCV001546147] |
Chr11:32430918 [GRCh38] Chr11:32452464 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.662-1928_662-1927del |
deletion |
Drash syndrome [RCV002244609]|Frasier syndrome [RCV002244608]|Meacham syndrome [RCV002244610]|Nephrotic syndrome, type 4 [RCV002244611]|Wilms tumor 1 [RCV002244079]|not provided [RCV001618411]|not specified [RCV000254492] |
Chr11:32430546..32430547 [GRCh38] Chr11:32452092..32452093 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.636G>C (p.Glu212Asp) |
single nucleotide variant |
Drash syndrome [RCV003777299]|not provided [RCV003318188] |
Chr11:32434725 [GRCh38] Chr11:32456271 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.662-2173G>A |
single nucleotide variant |
not provided [RCV001540420] |
Chr11:32430792 [GRCh38] Chr11:32452338 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.491C>T (p.Ala164Val) |
single nucleotide variant |
not provided [RCV001532158] |
Chr11:32434870 [GRCh38] Chr11:32456416 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.577G>T (p.Ala193Ser) |
single nucleotide variant |
WT1-related disorder [RCV004550310] |
Chr11:32434784 [GRCh38] Chr11:32456330 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.661+161G>T |
single nucleotide variant |
not provided [RCV001565951] |
Chr11:32434539 [GRCh38] Chr11:32456085 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.350del (p.Gly117fs) |
deletion |
Wilms tumor 1 [RCV004584156] |
Chr11:32435011 [GRCh38] Chr11:32456557 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.393G>A (p.Pro131=) |
single nucleotide variant |
Drash syndrome [RCV001998692] |
Chr11:32434968 [GRCh38] Chr11:32456514 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.662-2359C>G |
single nucleotide variant |
not provided [RCV001685730] |
Chr11:32430978 [GRCh38] Chr11:32452524 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.661+58C>T |
single nucleotide variant |
not provided [RCV001557743] |
Chr11:32434642 [GRCh38] Chr11:32456188 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.662-2310C>T |
single nucleotide variant |
not provided [RCV001566409] |
Chr11:32430929 [GRCh38] Chr11:32452475 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.645C>G (p.Pro215=) |
single nucleotide variant |
Drash syndrome [RCV001479070] |
Chr11:32434716 [GRCh38] Chr11:32456262 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.523G>T (p.Gly175Cys) |
single nucleotide variant |
Drash syndrome [RCV000995915] |
Chr11:32434838 [GRCh38] Chr11:32456384 [GRCh37] Chr11:11p13 |
likely pathogenic |
NM_024426.6(WT1):c.202G>A (p.Gly68Arg) |
single nucleotide variant |
Drash syndrome [RCV001223644] |
Chr11:32435159 [GRCh38] Chr11:32456705 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.542G>C (p.Arg181Pro) |
single nucleotide variant |
Drash syndrome [RCV001223822]|Drash syndrome [RCV003462762] |
Chr11:32434819 [GRCh38] Chr11:32456365 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.54G>A (p.Ala18=) |
single nucleotide variant |
Drash syndrome [RCV000863507]|Wilms tumor 1 [RCV004002934]|not provided [RCV003392638] |
Chr11:32435307 [GRCh38] Chr11:32456853 [GRCh37] Chr11:11p13 |
likely benign |
NC_000011.10:g.(?_32389048)_(32435355_?)del |
deletion |
Drash syndrome [RCV000823260] |
Chr11:32389048..32435355 [GRCh38] Chr11:32410594..32456901 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.153C>T (p.Ala51=) |
single nucleotide variant |
Drash syndrome [RCV000924163]|Hereditary cancer-predisposing syndrome [RCV002259052] |
Chr11:32435208 [GRCh38] Chr11:32456754 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.416C>G (p.Pro139Arg) |
single nucleotide variant |
Drash syndrome [RCV000233303] |
Chr11:32434945 [GRCh38] Chr11:32456491 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.225C>A (p.Gly75=) |
single nucleotide variant |
Drash syndrome [RCV001482843] |
Chr11:32435136 [GRCh38] Chr11:32456682 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.345C>T (p.Pro115=) |
single nucleotide variant |
Drash syndrome [RCV000576511]|Drash syndrome [RCV001516886]|Drash syndrome [RCV002243843]|Frasier syndrome [RCV002243842]|Meacham syndrome [RCV000364660]|Nephroblastoma [RCV003588587]|Nephrotic syndrome, type 4 [RCV000309796]|Wilms tumor 1 [RCV000363346]|not provided [RCV000588463]|not specified [RCV000173525] |
Chr11:32435016 [GRCh38] Chr11:32456562 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.259G>A (p.Ala87Thr) |
single nucleotide variant |
Drash syndrome [RCV000887658]|Wilms tumor 1 [RCV004003145] |
Chr11:32435102 [GRCh38] Chr11:32456648 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.172C>T (p.Leu58Phe) |
single nucleotide variant |
Drash syndrome [RCV001240395]|Drash syndrome [RCV004570612] |
Chr11:32435189 [GRCh38] Chr11:32456735 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.340G>A (p.Ala114Thr) |
single nucleotide variant |
Drash syndrome [RCV000820035] |
Chr11:32435021 [GRCh38] Chr11:32456567 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.587G>A (p.Gly196Asp) |
single nucleotide variant |
Drash syndrome [RCV000653778]|Drash syndrome [RCV004567850]|Meacham syndrome [RCV000397632]|Nephrotic syndrome, type 4 [RCV000354093]|Wilms tumor 1 [RCV000313309]|not provided [RCV003324741] |
Chr11:32434774 [GRCh38] Chr11:32456320 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.285C>T (p.Gly95=) |
single nucleotide variant |
11p partial monosomy syndrome [RCV000371797]|Meacham syndrome [RCV000337292]|Nephroblastoma [RCV000282320]|Nephrotic syndrome, type 4 [RCV000317141] |
Chr11:32435076 [GRCh38] Chr11:32456622 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.223G>A (p.Gly75Ser) |
single nucleotide variant |
Aniridia 1 [RCV002501137]|Drash syndrome [RCV000821019]|Drash syndrome [RCV003467502] |
Chr11:32435138 [GRCh38] Chr11:32456684 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.472G>T (p.Glu158Ter) |
single nucleotide variant |
Drash syndrome [RCV000988519] |
Chr11:32434889 [GRCh38] Chr11:32456435 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.28G>T (p.Ala10Ser) |
single nucleotide variant |
Drash syndrome [RCV000988524]|Drash syndrome [RCV003769301]|Hereditary cancer-predisposing syndrome [RCV002256642]|WT1-related disorder [RCV004553528] |
Chr11:32435333 [GRCh38] Chr11:32456879 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.-31G>T |
single nucleotide variant |
11p partial monosomy syndrome [RCV000328507]|Meacham syndrome [RCV000293409]|Nephroblastoma [RCV000329776]|Nephrotic syndrome, type 4 [RCV000382999] |
Chr11:32435391 [GRCh38] Chr11:32456937 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.392C>G (p.Pro131Arg) |
single nucleotide variant |
Drash syndrome [RCV001205970] |
Chr11:32434969 [GRCh38] Chr11:32456515 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.181C>A (p.Arg61=) |
single nucleotide variant |
Drash syndrome [RCV000229054]|Drash syndrome [RCV002243919]|Focal segmental glomerulosclerosis [RCV002294090]|Frasier syndrome [RCV002243918]|Meacham syndrome [RCV000259336]|Nephroblastoma [RCV003588602]|Nephrotic syndrome, type 4 [RCV000373790]|Wilms tumor 1 [RCV000319093]|not provided [RCV001668399]|not specified [RCV000250947] |
Chr11:32435180 [GRCh38] Chr11:32456726 [GRCh37] Chr11:11p13 |
benign|likely benign |
NM_024426.6(WT1):c.630C>T (p.Cys210=) |
single nucleotide variant |
Drash syndrome [RCV001393156] |
Chr11:32434731 [GRCh38] Chr11:32456277 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.463G>A (p.Glu155Lys) |
single nucleotide variant |
Drash syndrome [RCV001211333] |
Chr11:32434898 [GRCh38] Chr11:32456444 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.567G>T (p.Pro189=) |
single nucleotide variant |
Drash syndrome [RCV000868984] |
Chr11:32434794 [GRCh38] Chr11:32456340 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.87C>A (p.Cys29Ter) |
single nucleotide variant |
Drash syndrome [RCV001214489] |
Chr11:32435274 [GRCh38] Chr11:32456820 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.237G>C (p.Arg79=) |
single nucleotide variant |
Drash syndrome [RCV001503792] |
Chr11:32435124 [GRCh38] Chr11:32456670 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.-106C>T |
single nucleotide variant |
Drash syndrome [RCV000988525]|Meacham syndrome [RCV000309401]|Nephrotic syndrome, type 4 [RCV000391926]|WT1-related disorder [RCV004549662]|Wilms tumor 1 [RCV000285278] |
Chr11:32435466 [GRCh38] Chr11:32457012 [GRCh37] Chr11:11p13 |
benign|likely benign|uncertain significance |
NM_024426.6(WT1):c.565C>T (p.Pro189Ser) |
single nucleotide variant |
Drash syndrome [RCV001207397] |
Chr11:32434796 [GRCh38] Chr11:32456342 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.598A>T (p.Met200Leu) |
single nucleotide variant |
Drash syndrome [RCV001209315] |
Chr11:32434763 [GRCh38] Chr11:32456309 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.52G>C (p.Ala18Pro) |
single nucleotide variant |
Drash syndrome [RCV000812742]|Wilms tumor 1 [RCV001258177] |
Chr11:32435309 [GRCh38] Chr11:32456855 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.351C>T (p.Gly117=) |
single nucleotide variant |
Aniridia 1 [RCV002484233]|Drash syndrome [RCV001226664] |
Chr11:32435010 [GRCh38] Chr11:32456556 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.646G>A (p.Ala216Thr) |
single nucleotide variant |
Aniridia 1 [RCV002504234]|Drash syndrome [RCV001203960]|not provided [RCV003442764] |
Chr11:32434715 [GRCh38] Chr11:32456261 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.455G>A (p.Gly152Asp) |
single nucleotide variant |
Drash syndrome [RCV001236894] |
Chr11:32434906 [GRCh38] Chr11:32456452 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.290G>C (p.Cys97Ser) |
single nucleotide variant |
Drash syndrome [RCV001240969] |
Chr11:32435071 [GRCh38] Chr11:32456617 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.380C>G (p.Pro127Arg) |
single nucleotide variant |
Drash syndrome [RCV000815329]|Wilms tumor 1 [RCV004001775] |
Chr11:32434981 [GRCh38] Chr11:32456527 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.174C>G (p.Leu58=) |
single nucleotide variant |
Drash syndrome [RCV001406806]|Hereditary cancer-predisposing syndrome [RCV002257630]|Meacham syndrome [RCV000379774]|Nephrotic syndrome, type 4 [RCV000326942]|WT1-related disorder [RCV004549661]|Wilms tumor 1 [RCV000320416]|not provided [RCV002292517] |
Chr11:32435187 [GRCh38] Chr11:32456733 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.326C>A (p.Pro109Gln) |
single nucleotide variant |
Drash syndrome [RCV001222590] |
Chr11:32435035 [GRCh38] Chr11:32456581 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.186G>A (p.Arg62=) |
single nucleotide variant |
Drash syndrome [RCV001496660]|Wilms tumor 1 [RCV004003166] |
Chr11:32435175 [GRCh38] Chr11:32456721 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.578C>G (p.Ala193Gly) |
single nucleotide variant |
Drash syndrome [RCV001233923] |
Chr11:32434783 [GRCh38] Chr11:32456329 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.653G>A (p.Arg218His) |
single nucleotide variant |
Aniridia 1 [RCV002504326]|Drash syndrome [RCV001235538]|Wilms tumor 1 [RCV004004863] |
Chr11:32434708 [GRCh38] Chr11:32456254 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.604C>T (p.Pro202Ser) |
single nucleotide variant |
Drash syndrome [RCV001223884]|not provided [RCV004590243] |
Chr11:32434757 [GRCh38] Chr11:32456303 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.-90T>C |
single nucleotide variant |
11p partial monosomy syndrome [RCV000328926]|Meacham syndrome [RCV000275075]|Nephroblastoma [RCV000271498]|Nephrotic syndrome, type 4 [RCV000367318] |
Chr11:32435450 [GRCh38] Chr11:32456996 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.375C>T (p.Gly125=) |
single nucleotide variant |
Drash syndrome [RCV001081658]|Hereditary cancer-predisposing syndrome [RCV002256170]|Meacham syndrome [RCV000338855]|Nephrotic syndrome, type 4 [RCV000402704]|WT1-related disorder [RCV004547616]|Wilms tumor 1 [RCV000373715]|not provided [RCV000229394] |
Chr11:32434986 [GRCh38] Chr11:32456532 [GRCh37] Chr11:11p13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_024426.6(WT1):c.309C>A (p.Gly103=) |
single nucleotide variant |
Drash syndrome [RCV001083587]|Hereditary cancer-predisposing syndrome [RCV002257599]|Meacham syndrome [RCV000276013]|Nephrotic syndrome, type 4 [RCV000389047]|Wilms tumor 1 [RCV000329886]|not provided [RCV000832485] |
Chr11:32435052 [GRCh38] Chr11:32456598 [GRCh37] Chr11:11p13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_024426.6(WT1):c.472G>C (p.Glu158Gln) |
single nucleotide variant |
Drash syndrome [RCV001238555]|Drash syndrome [RCV003462810] |
Chr11:32434889 [GRCh38] Chr11:32456435 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.236G>A (p.Arg79Gln) |
single nucleotide variant |
Drash syndrome [RCV001229486] |
Chr11:32435125 [GRCh38] Chr11:32456671 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.-76T>C |
single nucleotide variant |
Meacham syndrome [RCV000388943]|Nephrotic syndrome, type 4 [RCV000406940]|Wilms tumor 1 [RCV000335695] |
Chr11:32435436 [GRCh38] Chr11:32456982 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.-110C>T |
single nucleotide variant |
Meacham syndrome [RCV000312852]|Nephrotic syndrome, type 4 [RCV000369749]|WT1-related disorder [RCV004739675]|Wilms tumor 1 [RCV000347910]|not provided [RCV003311744] |
Chr11:32435470 [GRCh38] Chr11:32457016 [GRCh37] Chr11:11p13 |
benign|likely benign|uncertain significance |
NM_024426.6(WT1):c.246C>T (p.Asn82=) |
single nucleotide variant |
Drash syndrome [RCV000975511] |
Chr11:32435115 [GRCh38] Chr11:32456661 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.320G>T (p.Trp107Leu) |
single nucleotide variant |
Drash syndrome [RCV000819854]|Drash syndrome [RCV003461263]|Wilms tumor 1 [RCV004002817] |
Chr11:32435041 [GRCh38] Chr11:32456587 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.326C>G (p.Pro109Arg) |
single nucleotide variant |
Drash syndrome [RCV001224159]|not provided [RCV004727002] |
Chr11:32435035 [GRCh38] Chr11:32456581 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) |
single nucleotide variant |
Drash syndrome [RCV000229513]|Hereditary cancer-predisposing syndrome [RCV002257598]|Inborn genetic diseases [RCV002519803]|Meacham syndrome [RCV001105882]|Nephrotic syndrome, type 4 [RCV001105881]|WT1-related disorder [RCV004739635]|Wilms tumor 1 [RCV001104737]|not provided [RCV001563568]|not specified [RCV001820764] |
Chr11:32435168 [GRCh38] Chr11:32456714 [GRCh37] Chr11:11p13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_024426.6(WT1):c.189C>T (p.Ser63=) |
single nucleotide variant |
Drash syndrome [RCV001452948] |
Chr11:32435172 [GRCh38] Chr11:32456718 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.211C>A (p.Pro71Thr) |
single nucleotide variant |
Drash syndrome [RCV001239966] |
Chr11:32435150 [GRCh38] Chr11:32456696 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.661+6T>C |
single nucleotide variant |
Drash syndrome [RCV000232641] |
Chr11:32434694 [GRCh38] Chr11:32456240 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.444G>A (p.Glu148=) |
single nucleotide variant |
Drash syndrome [RCV000981290] |
Chr11:32434917 [GRCh38] Chr11:32456463 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.201C>T (p.Ser67=) |
single nucleotide variant |
Drash syndrome [RCV000876167] |
Chr11:32435160 [GRCh38] Chr11:32456706 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.432C>T (p.Phe144=) |
single nucleotide variant |
Drash syndrome [RCV000876366]|Wilms tumor 1 [RCV004003113] |
Chr11:32434929 [GRCh38] Chr11:32456475 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.-82A>C |
single nucleotide variant |
11p partial monosomy syndrome [RCV000403760]|Meacham syndrome [RCV000303390]|Nephroblastoma [RCV000338537]|Nephrotic syndrome, type 4 [RCV000281206] |
Chr11:32435442 [GRCh38] Chr11:32456988 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.247G>T (p.Ala83Ser) |
single nucleotide variant |
11p partial monosomy syndrome [RCV000406586]|Meacham syndrome [RCV000343026]|Nephroblastoma [RCV000377859]|Nephrotic syndrome, type 4 [RCV000283305] |
Chr11:32435114 [GRCh38] Chr11:32456660 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.404C>T (p.Pro135Leu) |
single nucleotide variant |
Drash syndrome [RCV000458098]|Drash syndrome [RCV000988520]|Wilms tumor 1 [RCV004000749] |
Chr11:32434957 [GRCh38] Chr11:32456503 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.205T>A (p.Ser69Thr) |
single nucleotide variant |
Drash syndrome [RCV000988522] |
Chr11:32435156 [GRCh38] Chr11:32456702 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.391C>T (p.Pro131Ser) |
single nucleotide variant |
Drash syndrome [RCV000988521]|Drash syndrome [RCV001861942]|Wilms tumor 1 [RCV003999794] |
Chr11:32434970 [GRCh38] Chr11:32456516 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.258C>T (p.Pro86=) |
single nucleotide variant |
Drash syndrome [RCV001424278] |
Chr11:32435103 [GRCh38] Chr11:32456649 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.381C>G (p.Pro127=) |
single nucleotide variant |
Drash syndrome [RCV000458360]|Hereditary cancer-predisposing syndrome [RCV002255349]|Meacham syndrome [RCV000385897]|Nephrotic syndrome, type 4 [RCV000331399]|Wilms tumor 1 [RCV000296276]|not provided [RCV001091948]|not specified [RCV000250670] |
Chr11:32434980 [GRCh38] Chr11:32456526 [GRCh37] Chr11:11p13 |
benign|likely benign|uncertain significance |
NM_024426.6(WT1):c.136G>T (p.Ala46Ser) |
single nucleotide variant |
11p partial monosomy syndrome [RCV000405576]|Meacham syndrome [RCV000299099]|Nephroblastoma [RCV000292853]|Nephrotic syndrome, type 4 [RCV000352305] |
Chr11:32435225 [GRCh38] Chr11:32456771 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.552C>T (p.Pro184=) |
single nucleotide variant |
not provided [RCV000994598] |
Chr11:32434809 [GRCh38] Chr11:32456355 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.162C>G (p.Ser54Arg) |
single nucleotide variant |
Drash syndrome [RCV000465825]|Inborn genetic diseases [RCV003165825]|Meacham syndrome [RCV000346620]|Nephrotic syndrome, type 4 [RCV000393616]|Wilms tumor 1 [RCV000709153] |
Chr11:32435199 [GRCh38] Chr11:32456745 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.324G>A (p.Ala108=) |
single nucleotide variant |
Drash syndrome [RCV001441787] |
Chr11:32435037 [GRCh38] Chr11:32456583 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.549G>T (p.Gly183=) |
single nucleotide variant |
Drash syndrome [RCV000932879] |
Chr11:32434812 [GRCh38] Chr11:32456358 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.569C>T (p.Pro190Leu) |
single nucleotide variant |
Drash syndrome [RCV002064470]|Inborn genetic diseases [RCV002538928] |
Chr11:32434792 [GRCh38] Chr11:32456338 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.267C>T (p.Pro89=) |
single nucleotide variant |
Drash syndrome [RCV000869278]|Wilms tumor 1 [RCV004003040] |
Chr11:32435094 [GRCh38] Chr11:32456640 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.124G>A (p.Gly42Ser) |
single nucleotide variant |
Drash syndrome [RCV000653792]|Drash syndrome [RCV000988523]|Meacham syndrome [RCV001108129]|Nephrotic syndrome, type 4 [RCV001108130]|Wilms tumor 1 [RCV000709154]|not provided [RCV003442007] |
Chr11:32435237 [GRCh38] Chr11:32456783 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.531C>G (p.Ala177=) |
single nucleotide variant |
Drash syndrome [RCV001423424] |
Chr11:32434830 [GRCh38] Chr11:32456376 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.216G>T (p.Gln72His) |
single nucleotide variant |
Drash syndrome [RCV000232293]|Drash syndrome [RCV002243921]|Frasier syndrome [RCV002243920]|Meacham syndrome [RCV000390844]|Nephrotic syndrome, type 4 [RCV000347621]|WT1-related disorder [RCV004547615]|Wilms tumor 1 [RCV000239344]|not provided [RCV001697685]|not specified [RCV001820765] |
Chr11:32435145 [GRCh38] Chr11:32456691 [GRCh37] Chr11:11p13 |
pathogenic|benign|likely benign|uncertain significance |
NM_024426.6(WT1):c.-135G>A |
single nucleotide variant |
Meacham syndrome [RCV000320133]|Nephrotic syndrome, type 4 [RCV000377135]|Wilms tumor 1 [RCV000266056] |
Chr11:32435495 [GRCh38] Chr11:32457041 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.196G>A (p.Ala66Thr) |
single nucleotide variant |
Drash syndrome [RCV000795717]|not provided [RCV003238221] |
Chr11:32435165 [GRCh38] Chr11:32456711 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.78G>A (p.Gly26=) |
single nucleotide variant |
Drash syndrome [RCV001434093]|Wilms tumor 1 [RCV004003173] |
Chr11:32435283 [GRCh38] Chr11:32456829 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.366G>A (p.Gly122=) |
single nucleotide variant |
Drash syndrome [RCV000868833]|Wilms tumor 1 [RCV004003027] |
Chr11:32434995 [GRCh38] Chr11:32456541 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.627C>T (p.Ser209=) |
single nucleotide variant |
Drash syndrome [RCV000894809]|Wilms tumor 1 [RCV004003148] |
Chr11:32434734 [GRCh38] Chr11:32456280 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.51G>A (p.Pro17=) |
single nucleotide variant |
Drash syndrome [RCV000919394] |
Chr11:32435310 [GRCh38] Chr11:32456856 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.151del (p.Ala51fs) |
deletion |
Drash syndrome [RCV000705265]|Drash syndrome [RCV003463715]|Precursor B-cell acute lymphoblastic leukemia [RCV000722020]|WT1-related disorder [RCV004547647]|not provided [RCV000255852] |
Chr11:32435210 [GRCh38] Chr11:32456756 [GRCh37] Chr11:11p13 |
likely pathogenic|uncertain significance |
NM_024426.6(WT1):c.-86T>C |
single nucleotide variant |
11p partial monosomy syndrome [RCV000403401]|Meacham syndrome [RCV000363760]|Nephroblastoma [RCV000306906]|Nephrotic syndrome, type 4 [RCV000360499] |
Chr11:32435446 [GRCh38] Chr11:32456992 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.527C>T (p.Thr176Ile) |
single nucleotide variant |
Drash syndrome [RCV001202216] |
Chr11:32434834 [GRCh38] Chr11:32456380 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.29C>T (p.Ala10Val) |
single nucleotide variant |
Drash syndrome [RCV000807502] |
Chr11:32435332 [GRCh38] Chr11:32456878 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.273G>A (p.Leu91=) |
single nucleotide variant |
Drash syndrome [RCV001220883]|Hereditary cancer-predisposing syndrome [RCV002258165]|Wilms tumor 1 [RCV004010738] |
Chr11:32435088 [GRCh38] Chr11:32456634 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.112G>C (p.Val38Leu) |
single nucleotide variant |
Drash syndrome [RCV000799751]|WT1-related disorder [RCV004740454] |
Chr11:32435249 [GRCh38] Chr11:32456795 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.268T>C (p.Ser90Pro) |
single nucleotide variant |
Drash syndrome [RCV000806314] |
Chr11:32435093 [GRCh38] Chr11:32456639 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.62A>T (p.His21Leu) |
single nucleotide variant |
Drash syndrome [RCV001227903] |
Chr11:32435299 [GRCh38] Chr11:32456845 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.311C>G (p.Ala104Gly) |
single nucleotide variant |
Drash syndrome [RCV001228527]|Hereditary cancer-predisposing syndrome [RCV002256712] |
Chr11:32435050 [GRCh38] Chr11:32456596 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.547G>C (p.Gly183Arg) |
single nucleotide variant |
Drash syndrome [RCV001203243]|Wilms tumor 1 [RCV004010626] |
Chr11:32434814 [GRCh38] Chr11:32456360 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.451T>A (p.Trp151Arg) |
single nucleotide variant |
Drash syndrome [RCV001242235] |
Chr11:32434910 [GRCh38] Chr11:32456456 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.448A>G (p.Ser150Gly) |
single nucleotide variant |
Drash syndrome [RCV001243393]|Wilms tumor 1 [RCV004004898] |
Chr11:32434913 [GRCh38] Chr11:32456459 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.386C>A (p.Pro129Gln) |
single nucleotide variant |
Aniridia 1 [RCV002487635]|Drash syndrome [RCV000791797] |
Chr11:32434975 [GRCh38] Chr11:32456521 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.170G>T (p.Arg57Leu) |
single nucleotide variant |
Drash syndrome [RCV001202279]|Wilms tumor 1 [RCV004010619] |
Chr11:32435191 [GRCh38] Chr11:32456737 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.478C>G (p.Gln160Glu) |
single nucleotide variant |
Drash syndrome [RCV001202363] |
Chr11:32434883 [GRCh38] Chr11:32456429 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.658C>A (p.Gln220Lys) |
single nucleotide variant |
Aniridia 1 [RCV002487756]|Drash syndrome [RCV000810339]|Drash syndrome [RCV003461193]|Wilms tumor 1 [RCV004001722]|not provided [RCV001776023] |
Chr11:32434703 [GRCh38] Chr11:32456249 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.341C>A (p.Ala114Glu) |
single nucleotide variant |
Drash syndrome [RCV000811058] |
Chr11:32435020 [GRCh38] Chr11:32456566 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.590A>G (p.Gln197Arg) |
single nucleotide variant |
Drash syndrome [RCV001210179]|Wilms tumor 1 [RCV004010678] |
Chr11:32434771 [GRCh38] Chr11:32456317 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.116G>A (p.Arg39Gln) |
single nucleotide variant |
Drash syndrome [RCV000810092] |
Chr11:32435245 [GRCh38] Chr11:32456791 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.387G>T (p.Pro129=) |
single nucleotide variant |
Drash syndrome [RCV001448320] |
Chr11:32434974 [GRCh38] Chr11:32456520 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.298C>A (p.Pro100Thr) |
single nucleotide variant |
Drash syndrome [RCV000803104] |
Chr11:32435063 [GRCh38] Chr11:32456609 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.446C>A (p.Pro149Gln) |
single nucleotide variant |
Drash syndrome [RCV001206237] |
Chr11:32434915 [GRCh38] Chr11:32456461 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.427T>C (p.Ser143Pro) |
single nucleotide variant |
Drash syndrome [RCV001215074] |
Chr11:32434934 [GRCh38] Chr11:32456480 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.232G>A (p.Val78Met) |
single nucleotide variant |
Drash syndrome [RCV000810979] |
Chr11:32435129 [GRCh38] Chr11:32456675 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.591G>T (p.Gln197His) |
single nucleotide variant |
Aniridia 1 [RCV002478930]|Drash syndrome [RCV000823487] |
Chr11:32434770 [GRCh38] Chr11:32456316 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.419C>T (p.Pro140Leu) |
single nucleotide variant |
Drash syndrome [RCV000812508] |
Chr11:32434942 [GRCh38] Chr11:32456488 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.293C>G (p.Ala98Gly) |
single nucleotide variant |
Drash syndrome [RCV001209338]|Drash syndrome [RCV004570450] |
Chr11:32435068 [GRCh38] Chr11:32456614 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.609C>T (p.Asn203=) |
single nucleotide variant |
Drash syndrome [RCV000576729]|Drash syndrome [RCV001517367]|Drash syndrome [RCV002244668]|Frasier syndrome [RCV002244667]|Meacham syndrome [RCV000403336]|Nephroblastoma [RCV003588605]|Nephrotic syndrome, type 4 [RCV000393785]|WT1-related disorder [RCV004547639]|Wilms tumor 1 [RCV000348640]|not provided [RCV000586923]|not specified [RCV000247609] |
Chr11:32434752 [GRCh38] Chr11:32456298 [GRCh37] Chr11:11p13 |
benign|likely benign |
NM_024426.6(WT1):c.390A>G (p.Pro130=) |
single nucleotide variant |
Drash syndrome [RCV001406430]|Meacham syndrome [RCV000270783]|Nephrotic syndrome, type 4 [RCV000325850]|Wilms tumor 1 [RCV000385110] |
Chr11:32434971 [GRCh38] Chr11:32456517 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.465G>A (p.Glu155=) |
single nucleotide variant |
Drash syndrome [RCV001432441] |
Chr11:32434896 [GRCh38] Chr11:32456442 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.-114T>A |
single nucleotide variant |
Meacham syndrome [RCV000262642]|Nephrotic syndrome, type 4 [RCV000297562]|Wilms tumor 1 [RCV000354719] |
Chr11:32435474 [GRCh38] Chr11:32457020 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.402G>A (p.Pro134=) |
single nucleotide variant |
Drash syndrome [RCV000894878]|Meacham syndrome [RCV001107374]|Nephrotic syndrome, type 4 [RCV001104629]|Wilms tumor 1 [RCV001104628]|not specified [RCV003117641] |
Chr11:32434959 [GRCh38] Chr11:32456505 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.-102C>A |
single nucleotide variant |
Meacham syndrome [RCV000281705]|Nephrotic syndrome, type 4 [RCV000339023]|Wilms tumor 1 [RCV000377381] |
Chr11:32435462 [GRCh38] Chr11:32457008 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.312G>A (p.Ala104=) |
single nucleotide variant |
Drash syndrome [RCV000936823]|Wilms tumor 1 [RCV004003285] |
Chr11:32435049 [GRCh38] Chr11:32456595 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.115C>A (p.Arg39=) |
single nucleotide variant |
Aniridia 1 [RCV002478992]|Drash syndrome [RCV000876473]|Hereditary cancer-predisposing syndrome [RCV002258021] |
Chr11:32435246 [GRCh38] Chr11:32456792 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.429C>G (p.Ser143=) |
single nucleotide variant |
Drash syndrome [RCV001398800]|Wilms tumor 1 [RCV004004360] |
Chr11:32434932 [GRCh38] Chr11:32456478 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.193G>T (p.Gly65Trp) |
single nucleotide variant |
Drash syndrome [RCV000801214]|Drash syndrome [RCV003461126]|not provided [RCV004723205] |
Chr11:32435168 [GRCh38] Chr11:32456714 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.45G>A (p.Pro15=) |
single nucleotide variant |
Drash syndrome [RCV000802455] |
Chr11:32435316 [GRCh38] Chr11:32456862 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.213G>T (p.Pro71=) |
single nucleotide variant |
Drash syndrome [RCV001517368]|Drash syndrome [RCV002244664]|Frasier syndrome [RCV002244663]|Meacham syndrome [RCV000313693]|Nephroblastoma [RCV003588604]|Nephrotic syndrome, type 4 [RCV000367093]|Wilms tumor 1 [RCV000354183]|not provided [RCV000590459]|not specified [RCV000254527] |
Chr11:32435148 [GRCh38] Chr11:32435148..32435149 [GRCh38] Chr11:32456694 [GRCh37] Chr11:32456694..32456695 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.381C>A (p.Pro127=) |
single nucleotide variant |
Drash syndrome [RCV000905269] |
Chr11:32434980 [GRCh38] Chr11:32456526 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.543C>T (p.Arg181=) |
single nucleotide variant |
Aniridia 1 [RCV002479928]|Drash syndrome [RCV000227083]|Hereditary cancer-predisposing syndrome [RCV002258862]|WT1-related disorder [RCV004547617]|Wilms tumor 1 [RCV003998888] |
Chr11:32434818 [GRCh38] Chr11:32456364 [GRCh37] Chr11:11p13 |
benign|likely benign |
NM_024426.6(WT1):c.262G>T (p.Val88Phe) |
single nucleotide variant |
Drash syndrome [RCV001203276] |
Chr11:32435099 [GRCh38] Chr11:32456645 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.70C>T (p.Arg24Cys) |
single nucleotide variant |
Drash syndrome [RCV000229861]|Drash syndrome [RCV003469162]|Wilms tumor 1 [RCV001526809]|not provided [RCV002281076] |
Chr11:32435291 [GRCh38] Chr11:32456837 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.83G>A (p.Gly28Glu) |
single nucleotide variant |
Drash syndrome [RCV000230312]|Meacham syndrome [RCV000268747]|Nephrotic syndrome, type 4 [RCV000324890]|Wilms tumor 1 [RCV000265058]|not provided [RCV004760464] |
Chr11:32435278 [GRCh38] Chr11:32456824 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.556G>A (p.Gly186Ser) |
single nucleotide variant |
Drash syndrome [RCV001236725] |
Chr11:32434805 [GRCh38] Chr11:32456351 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.-140C>T |
single nucleotide variant |
Meacham syndrome [RCV000383060]|Nephrotic syndrome, type 4 [RCV000345810]|Wilms tumor 1 [RCV000380616] |
Chr11:32435500 [GRCh38] Chr11:32457046 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.577G>A (p.Ala193Thr) |
single nucleotide variant |
Drash syndrome [RCV001212994]|Drash syndrome [RCV003467555]|Wilms tumor 1 [RCV004004429]|not provided [RCV003238259] |
Chr11:32434784 [GRCh38] Chr11:32456330 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.278G>A (p.Gly93Asp) |
single nucleotide variant |
Drash syndrome [RCV000809565] |
Chr11:32435083 [GRCh38] Chr11:32456629 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.269C>T (p.Ser90Phe) |
single nucleotide variant |
Drash syndrome [RCV001214114] |
Chr11:32435092 [GRCh38] Chr11:32456638 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.524G>A (p.Gly175Asp) |
single nucleotide variant |
Drash syndrome [RCV001209022] |
Chr11:32434837 [GRCh38] Chr11:32456383 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.169C>G (p.Arg57Gly) |
single nucleotide variant |
Drash syndrome [RCV001209648] |
Chr11:32435192 [GRCh38] Chr11:32456738 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.358G>A (p.Ala120Thr) |
single nucleotide variant |
Drash syndrome [RCV000807017]|Wilms tumor 1 [RCV004001692]|not provided [RCV003325521] |
Chr11:32435003 [GRCh38] Chr11:32456549 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.36G>T (p.Thr12=) |
single nucleotide variant |
Drash syndrome [RCV001484769] |
Chr11:32435325 [GRCh38] Chr11:32456871 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.-94G>C |
single nucleotide variant |
11p partial monosomy syndrome [RCV000259704]|Meacham syndrome [RCV000389288]|Nephroblastoma [RCV000332476]|Nephrotic syndrome, type 4 [RCV000316879]|not provided [RCV004693034] |
Chr11:32435454 [GRCh38] Chr11:32457000 [GRCh37] Chr11:11p13 |
uncertain significance |
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 |
copy number loss |
See cases [RCV000142499] |
Chr11:20079474..34463996 [GRCh38] Chr11:20101020..34485543 [GRCh37] Chr11:20057596..34442119 [NCBI36] Chr11:11p15.1-13 |
pathogenic |
NM_024426.6(WT1):c.195G>A (p.Gly65=) |
single nucleotide variant |
Drash syndrome [RCV000861843]|Hereditary cancer-predisposing syndrome [RCV002256563] |
Chr11:32435166 [GRCh38] Chr11:32456712 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.27G>A (p.Pro9=) |
single nucleotide variant |
Aniridia 1 [RCV002507467]|Drash syndrome [RCV000862080]|Hereditary cancer-predisposing syndrome [RCV002255550]|WT1-related disorder [RCV004549922]|not provided [RCV003389834] |
Chr11:32435334 [GRCh38] Chr11:32456880 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.110G>C (p.Gly37Ala) |
single nucleotide variant |
Drash syndrome [RCV001247602] |
Chr11:32435251 [GRCh38] Chr11:32456797 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.4(WT1):c.-247T>C |
single nucleotide variant |
not provided [RCV000836792] |
Chr11:32435592 [GRCh38] Chr11:32457138 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.417G>A (p.Pro139=) |
single nucleotide variant |
Drash syndrome [RCV000870297] |
Chr11:32434944 [GRCh38] Chr11:32456490 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.278G>C (p.Gly93Ala) |
single nucleotide variant |
Nephrotic syndrome, type 4 [RCV001257279] |
Chr11:32435083 [GRCh38] Chr11:32456629 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.149C>A (p.Ala50Asp) |
single nucleotide variant |
Drash syndrome [RCV001215452] |
Chr11:32435212 [GRCh38] Chr11:32456758 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.136G>A (p.Ala46Thr) |
single nucleotide variant |
Drash syndrome [RCV000812076] |
Chr11:32435225 [GRCh38] Chr11:32456771 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.279C>T (p.Gly93=) |
single nucleotide variant |
Drash syndrome [RCV000866104] |
Chr11:32435082 [GRCh38] Chr11:32456628 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.123G>C (p.Pro41=) |
single nucleotide variant |
Drash syndrome [RCV001082622]|Hereditary cancer-predisposing syndrome [RCV002255310]|Meacham syndrome [RCV000353922]|Nephroblastoma [RCV003493483]|Nephrotic syndrome, type 4 [RCV000359538]|Wilms tumor 1 [RCV000406473]|not provided [RCV000228031]|not specified [RCV000253106] |
Chr11:32435238 [GRCh38] Chr11:32456784 [GRCh37] Chr11:11p13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_024426.6(WT1):c.638G>A (p.Ser213Asn) |
single nucleotide variant |
Drash syndrome [RCV001219269]|Drash syndrome [RCV003469374] |
Chr11:32434723 [GRCh38] Chr11:32456269 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.133T>G (p.Trp45Gly) |
single nucleotide variant |
Drash syndrome [RCV001035334]|Hereditary cancer-predisposing syndrome [RCV002258087]|Wilms tumor 1 [RCV004004690] |
Chr11:32435228 [GRCh38] Chr11:32456774 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.352G>C (p.Ala118Pro) |
single nucleotide variant |
Drash syndrome [RCV001037968]|Wilms tumor 1 [RCV004004716] |
Chr11:32435009 [GRCh38] Chr11:32456555 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.231C>A (p.Asp77Glu) |
single nucleotide variant |
Drash syndrome [RCV001064647] |
Chr11:32435130 [GRCh38] Chr11:32456676 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.541C>A (p.Arg181Ser) |
single nucleotide variant |
Drash syndrome [RCV001295549]|Wilms tumor 1 [RCV000709145] |
Chr11:32434820 [GRCh38] Chr11:32456366 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.29C>A (p.Ala10Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259013]|Wilms tumor 1 [RCV000709155] |
Chr11:32435332 [GRCh38] Chr11:32456878 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.649A>T (p.Ile217Phe) |
single nucleotide variant |
Drash syndrome [RCV001039291] |
Chr11:32434712 [GRCh38] Chr11:32456258 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.280G>A (p.Gly94Ser) |
single nucleotide variant |
Drash syndrome [RCV001040242] |
Chr11:32435081 [GRCh38] Chr11:32456627 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.466C>T (p.Pro156Ser) |
single nucleotide variant |
Drash syndrome [RCV001042611]|Drash syndrome [RCV004570139] |
Chr11:32434895 [GRCh38] Chr11:32456441 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.382G>A (p.Ala128Thr) |
single nucleotide variant |
Drash syndrome [RCV001071106]|Wilms tumor 1 [RCV004000198] |
Chr11:32434979 [GRCh38] Chr11:32456525 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.620T>G (p.Leu207Arg) |
single nucleotide variant |
Drash syndrome [RCV001045458]|Drash syndrome [RCV003467740]|Meacham syndrome [RCV001102713]|Nephrotic syndrome, type 4 [RCV001102712]|Wilms tumor 1 [RCV001102714]|not provided [RCV003238284] |
Chr11:32434741 [GRCh38] Chr11:32456287 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.296T>A (p.Leu99Gln) |
single nucleotide variant |
Drash syndrome [RCV001045790] |
Chr11:32435065 [GRCh38] Chr11:32456611 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.412C>T (p.Pro138Ser) |
single nucleotide variant |
Drash syndrome [RCV001045835] |
Chr11:32434949 [GRCh38] Chr11:32456495 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.286G>A (p.Gly96Ser) |
single nucleotide variant |
Drash syndrome [RCV000464725]|WT1-related disorder [RCV004551516]|Wilms tumor 1 [RCV004000750] |
Chr11:32435075 [GRCh38] Chr11:32456621 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.91C>T (p.Gln31Ter) |
single nucleotide variant |
Drash syndrome [RCV001051124] |
Chr11:32435270 [GRCh38] Chr11:32456816 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.543_556del (p.Tyr182fs) |
deletion |
not provided [RCV000519247] |
Chr11:32434805..32434818 [GRCh38] Chr11:32456351..32456364 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.347C>T (p.Pro116Leu) |
single nucleotide variant |
Drash syndrome [RCV001071264]|Hereditary cancer-predisposing syndrome [RCV002257629]|Meacham syndrome [RCV000403549]|Nephrotic syndrome, type 4 [RCV000304028]|Wilms tumor 1 [RCV000303630] |
Chr11:32435014 [GRCh38] Chr11:32456560 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.600G>A (p.Met200Ile) |
single nucleotide variant |
Aniridia 1 [RCV002481407]|Drash syndrome [RCV000465831] |
Chr11:32434761 [GRCh38] Chr11:32456307 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.341C>T (p.Ala114Val) |
single nucleotide variant |
Drash syndrome [RCV001860465]|Nephrotic syndrome, type 4 [RCV000625689] |
Chr11:32435020 [GRCh38] Chr11:32456566 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.475G>A (p.Glu159Lys) |
single nucleotide variant |
Drash syndrome [RCV000528744]|Drash syndrome [RCV003459257]|Wilms tumor 1 [RCV003999465]|not provided [RCV003238775] |
Chr11:32434886 [GRCh38] Chr11:32456432 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.615C>G (p.Pro205=) |
single nucleotide variant |
Drash syndrome [RCV000473113]|WT1-related disorder [RCV004551517] |
Chr11:32434746 [GRCh38] Chr11:32456292 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.609C>G (p.Asn203Lys) |
single nucleotide variant |
Drash syndrome [RCV000475587] |
Chr11:32434752 [GRCh38] Chr11:32456298 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.172C>G (p.Leu58Val) |
single nucleotide variant |
Drash syndrome [RCV000653776] |
Chr11:32435189 [GRCh38] Chr11:32456735 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.346C>A (p.Pro116Thr) |
single nucleotide variant |
Drash syndrome [RCV000653785]|Drash syndrome [RCV003459550]|Inborn genetic diseases [RCV002534204] |
Chr11:32435015 [GRCh38] Chr11:32456561 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.146G>T (p.Gly49Val) |
single nucleotide variant |
Drash syndrome [RCV000653794]|Drash syndrome [RCV003459551] |
Chr11:32435215 [GRCh38] Chr11:32456761 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.159C>T (p.Ala53=) |
single nucleotide variant |
Drash syndrome [RCV000653813]|Wilms tumor 1 [RCV004004105] |
Chr11:32435202 [GRCh38] Chr11:32456748 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.315G>A (p.Ala105=) |
single nucleotide variant |
Drash syndrome [RCV000653815] |
Chr11:32435046 [GRCh38] Chr11:32456592 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.585C>T (p.Ser195=) |
single nucleotide variant |
Drash syndrome [RCV000653817]|Wilms tumor 1 [RCV004004106] |
Chr11:32434776 [GRCh38] Chr11:32456322 [GRCh37] Chr11:11p13 |
likely benign |
NC_000011.10:g.(?_32389058)_(32435345_?)del |
deletion |
Drash syndrome [RCV000653826] |
Chr11:32389058..32435345 [GRCh38] Chr11:32410604..32456891 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.248C>T (p.Ala83Val) |
single nucleotide variant |
Drash syndrome [RCV000532756] |
Chr11:32435113 [GRCh38] Chr11:32456659 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.133T>C (p.Trp45Arg) |
single nucleotide variant |
Drash syndrome [RCV000534991]|Wilms tumor 1 [RCV003999461]|not provided [RCV003126819] |
Chr11:32435228 [GRCh38] Chr11:32456774 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.204G>A (p.Gly68=) |
single nucleotide variant |
Drash syndrome [RCV001421139]|Wilms tumor 1 [RCV003999462] |
Chr11:32435157 [GRCh38] Chr11:32456703 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile) |
indel |
Drash syndrome [RCV000548802]|not provided [RCV004767384] |
Chr11:32435332..32435333 [GRCh38] Chr11:32456878..32456879 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.522T>C (p.Thr174=) |
single nucleotide variant |
Drash syndrome [RCV000549418] |
Chr11:32434839 [GRCh38] Chr11:32456385 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.247G>C (p.Ala83Pro) |
single nucleotide variant |
Drash syndrome [RCV000551894]|Wilms tumor 1 [RCV003999464] |
Chr11:32435114 [GRCh38] Chr11:32456660 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.277GGC[3] (p.Gly96del) |
microsatellite |
Drash syndrome [RCV000699416]|Drash syndrome [RCV003465609] |
Chr11:32435073..32435075 [GRCh38] Chr11:32456619..32456621 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.200C>G (p.Ser67Cys) |
single nucleotide variant |
Drash syndrome [RCV000552982]|Drash syndrome [RCV003459255]|Hereditary cancer-predisposing syndrome [RCV002258969] |
Chr11:32435161 [GRCh38] Chr11:32456707 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.121C>T (p.Pro41Ser) |
single nucleotide variant |
Drash syndrome [RCV000553840]|not provided [RCV003318595] |
Chr11:32435240 [GRCh38] Chr11:32456786 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.150C>T (p.Ala50=) |
single nucleotide variant |
Drash syndrome [RCV000559866] |
Chr11:32435211 [GRCh38] Chr11:32456757 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.76G>A (p.Gly26Arg) |
single nucleotide variant |
Drash syndrome [RCV001041189] |
Chr11:32435285 [GRCh38] Chr11:32456831 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.305G>A (p.Ser102Asn) |
single nucleotide variant |
Drash syndrome [RCV001041350]|Drash syndrome [RCV003467727]|Wilms tumor 1 [RCV004004740] |
Chr11:32435056 [GRCh38] Chr11:32456602 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.313G>T (p.Ala105Ser) |
single nucleotide variant |
Drash syndrome [RCV001042405]|Meacham syndrome [RCV001102808]|Nephrotic syndrome, type 4 [RCV001102809]|Wilms tumor 1 [RCV001102807] |
Chr11:32435048 [GRCh38] Chr11:32456594 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.122C>T (p.Pro41Leu) |
single nucleotide variant |
Drash syndrome [RCV001054531] |
Chr11:32435239 [GRCh38] Chr11:32456785 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.425A>C (p.His142Pro) |
single nucleotide variant |
Drash syndrome [RCV000687832] |
Chr11:32434936 [GRCh38] Chr11:32456482 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.143T>C (p.Leu48Ser) |
single nucleotide variant |
Drash syndrome [RCV000693095]|Wilms tumor 1 [RCV003999594] |
Chr11:32435218 [GRCh38] Chr11:32456764 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.413C>G (p.Pro138Arg) |
single nucleotide variant |
Drash syndrome [RCV001052395] |
Chr11:32434948 [GRCh38] Chr11:32456494 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.298C>T (p.Pro100Ser) |
single nucleotide variant |
Drash syndrome [RCV001057011] |
Chr11:32435063 [GRCh38] Chr11:32456609 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.480G>C (p.Gln160His) |
single nucleotide variant |
Drash syndrome [RCV000703344]|Wilms tumor 1 [RCV003999741]|not specified [RCV002249420] |
Chr11:32434881 [GRCh38] Chr11:32456427 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.352G>A (p.Ala118Thr) |
single nucleotide variant |
Drash syndrome [RCV000707030]|Drash syndrome [RCV003460989] |
Chr11:32435009 [GRCh38] Chr11:32456555 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.471C>A (p.His157Gln) |
single nucleotide variant |
Drash syndrome [RCV002532890]|Wilms tumor 1 [RCV000709147] |
Chr11:32434890 [GRCh38] Chr11:32456436 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.649A>G (p.Ile217Val) |
single nucleotide variant |
Drash syndrome [RCV001067017]|Wilms tumor 1 [RCV000709142] |
Chr11:32434712 [GRCh38] Chr11:32456258 [GRCh37] Chr11:11p13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_024426.6(WT1):c.50C>T (p.Pro17Leu) |
single nucleotide variant |
Drash syndrome [RCV001067413]|Wilms tumor 1 [RCV004000167] |
Chr11:32435311 [GRCh38] Chr11:32456857 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.610G>T (p.Ala204Ser) |
single nucleotide variant |
Wilms tumor 1 [RCV000709143] |
Chr11:32434751 [GRCh38] Chr11:32456297 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.609_611delinsTGA (p.Ala204Glu) |
indel |
not provided [RCV000722586] |
Chr11:32434750..32434752 [GRCh38] Chr11:32456296..32456298 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.177G>A (p.Gln59=) |
single nucleotide variant |
Drash syndrome [RCV001069554] |
Chr11:32435184 [GRCh38] Chr11:32456730 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.26C>T (p.Pro9Leu) |
single nucleotide variant |
Aniridia 1 [RCV002489716]|Drash syndrome [RCV001071726]|WT1-related disorder [RCV004740560]|not provided [RCV003736969] |
Chr11:32435335 [GRCh38] Chr11:32456881 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.34A>C (p.Thr12Pro) |
single nucleotide variant |
Drash syndrome [RCV000457233] |
Chr11:32435327 [GRCh38] Chr11:32456873 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup) |
microsatellite |
Drash syndrome [RCV000461389]|Hereditary cancer-predisposing syndrome [RCV002256255]|Nephroblastoma [RCV000761054]|WT1-related disorder [RCV004740230]|not provided [RCV003231488] |
Chr11:32434938..32434939 [GRCh38] Chr11:32456484..32456485 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.468G>T (p.Pro156=) |
single nucleotide variant |
Drash syndrome [RCV000464052]|not provided [RCV001530026] |
Chr11:32434893 [GRCh38] Chr11:32456439 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.584C>G (p.Ser195Cys) |
single nucleotide variant |
Drash syndrome [RCV000466754]|Wilms tumor 1 [RCV004000755] |
Chr11:32434777 [GRCh38] Chr11:32456323 [GRCh37] Chr11:11p13 |
uncertain significance |
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 |
copy number loss |
See cases [RCV000052648] |
Chr11:22550115..38199159 [GRCh38] Chr11:22571661..38220709 [GRCh37] Chr11:22528237..38177285 [NCBI36] Chr11:11p14.3-12 |
pathogenic |
NM_024426.6(WT1):c.421C>T (p.Pro141Ser) |
single nucleotide variant |
Drash syndrome [RCV000471816]|Hereditary cancer-predisposing syndrome [RCV002256256]|not provided [RCV001770319] |
Chr11:32434940 [GRCh38] Chr11:32456486 [GRCh37] Chr11:11p13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_024426.6(WT1):c.564T>A (p.Pro188=) |
single nucleotide variant |
Drash syndrome [RCV000472346]|Wilms tumor 1 [RCV004002126] |
Chr11:32434797 [GRCh38] Chr11:32456343 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.653G>T (p.Arg218Leu) |
single nucleotide variant |
Drash syndrome [RCV000475000]|Wilms tumor 1 [RCV004000752] |
Chr11:32434708 [GRCh38] Chr11:32456254 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.343C>T (p.Pro115Ser) |
single nucleotide variant |
Drash syndrome [RCV000473635]|Drash syndrome [RCV004567978]|WT1-related disorder [RCV004740231]|Wilms tumor 1 [RCV004000754]|not provided [RCV002305489] |
Chr11:32435018 [GRCh38] Chr11:32456564 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.445C>T (p.Pro149Ser) |
single nucleotide variant |
Drash syndrome [RCV000535421] |
Chr11:32434916 [GRCh38] Chr11:32456462 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.498T>C (p.Thr166=) |
single nucleotide variant |
Drash syndrome [RCV000536636] |
Chr11:32434863 [GRCh38] Chr11:32456409 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.218A>T (p.Gln73Leu) |
single nucleotide variant |
Aniridia 1 [RCV002491099]|Drash syndrome [RCV000544002]|Hereditary cancer-predisposing syndrome [RCV002256394]|Inborn genetic diseases [RCV002527933]|not provided [RCV001591301] |
Chr11:32435143 [GRCh38] Chr11:32456689 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.512G>T (p.Gly171Val) |
single nucleotide variant |
Drash syndrome [RCV001377140]|Nephrotic syndrome, type 4 [RCV000505662] |
Chr11:32434849 [GRCh38] Chr11:32456395 [GRCh37] Chr11:11p13 |
likely pathogenic|uncertain significance |
NM_024426.6(WT1):c.411G>C (p.Pro137=) |
single nucleotide variant |
Corticosteroids response [RCV001254653]|not provided [RCV003456485] |
Chr11:32434950 [GRCh38] Chr11:32456496 [GRCh37] Chr11:11p13 |
likely benign|drug response |
NM_024426.6(WT1):c.210G>C (p.Glu70Asp) |
single nucleotide variant |
Drash syndrome [RCV002005473]|not provided [RCV004770332] |
Chr11:32435151 [GRCh38] Chr11:32456697 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.77G>A (p.Gly26Glu) |
single nucleotide variant |
Drash syndrome [RCV000653804]|Drash syndrome [RCV004568468]|not provided [RCV003223663] |
Chr11:32435284 [GRCh38] Chr11:32456830 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.450C>T (p.Ser150=) |
single nucleotide variant |
Drash syndrome [RCV000653816] |
Chr11:32434911 [GRCh38] Chr11:32456457 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.26C>G (p.Pro9Arg) |
single nucleotide variant |
Drash syndrome [RCV000689861] |
Chr11:32435335 [GRCh38] Chr11:32456881 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.653del (p.Arg218fs) |
deletion |
Drash syndrome [RCV000692823] |
Chr11:32434708 [GRCh38] Chr11:32456254 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.24C>G (p.Asp8Glu) |
single nucleotide variant |
Drash syndrome [RCV001294408] |
Chr11:32435337 [GRCh38] Chr11:32456883 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.440A>G (p.Gln147Arg) |
single nucleotide variant |
Drash syndrome [RCV000706470] |
Chr11:32434921 [GRCh38] Chr11:32456467 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.298C>G (p.Pro100Ala) |
single nucleotide variant |
Meacham syndrome [RCV001104736]|Nephrotic syndrome, type 4 [RCV001102811]|Wilms tumor 1 [RCV001102810] |
Chr11:32435063 [GRCh38] Chr11:32456609 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.409C>G (p.Pro137Ala) |
single nucleotide variant |
Drash syndrome [RCV001037182]|Wilms tumor 1 [RCV004004708]|not provided [RCV004726808] |
Chr11:32434952 [GRCh38] Chr11:32456498 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.397C>T (p.Pro133Ser) |
single nucleotide variant |
Drash syndrome [RCV001040888] |
Chr11:32434964 [GRCh38] Chr11:32456510 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.555C>T (p.Phe185=) |
single nucleotide variant |
Drash syndrome [RCV000525642] |
Chr11:32434806 [GRCh38] Chr11:32456352 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.42C>T (p.Val14=) |
single nucleotide variant |
Drash syndrome [RCV000533511]|Wilms tumor 1 [RCV003999463] |
Chr11:32435319 [GRCh38] Chr11:32456865 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.388C>T (p.Pro130Ser) |
single nucleotide variant |
Drash syndrome [RCV000546676] |
Chr11:32434973 [GRCh38] Chr11:32456519 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.386C>T (p.Pro129Leu) |
single nucleotide variant |
Aniridia 1 [RCV002499256]|Drash syndrome [RCV000701081] |
Chr11:32434975 [GRCh38] Chr11:32456521 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.344C>A (p.Pro115His) |
single nucleotide variant |
Drash syndrome [RCV000691969]|Wilms tumor 1 [RCV003999571] |
Chr11:32435017 [GRCh38] Chr11:32456563 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.586G>A (p.Gly196Ser) |
single nucleotide variant |
Drash syndrome [RCV000706374]|Drash syndrome [RCV003460984]|not provided [RCV003153822] |
Chr11:32434775 [GRCh38] Chr11:32456321 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.513C>A (p.Gly171=) |
single nucleotide variant |
Drash syndrome [RCV000468659]|Drash syndrome [RCV002244666]|Frasier syndrome [RCV002244665]|Kidney disorder [RCV002294202]|Meacham syndrome [RCV000355484]|Nephrotic syndrome, type 4 [RCV000360737]|Wilms tumor 1 [RCV000320486]|not provided [RCV001559839]|not specified [RCV000242436] |
Chr11:32434848 [GRCh38] Chr11:32456394 [GRCh37] Chr11:11p13 |
benign|likely benign |
NM_024426.6(WT1):c.619C>T (p.Leu207=) |
single nucleotide variant |
Drash syndrome [RCV000471124]|Wilms tumor 1 [RCV004002129] |
Chr11:32434742 [GRCh38] Chr11:32456288 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.121C>G (p.Pro41Ala) |
single nucleotide variant |
Drash syndrome [RCV000698991] |
Chr11:32435240 [GRCh38] Chr11:32456786 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.641A>C (p.Gln214Pro) |
single nucleotide variant |
Drash syndrome [RCV000699911]|Drash syndrome [RCV003460966]|Wilms tumor 1 [RCV003999699] |
Chr11:32434720 [GRCh38] Chr11:32456266 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.314C>A (p.Ala105Glu) |
single nucleotide variant |
Wilms tumor 1 [RCV000709151] |
Chr11:32435047 [GRCh38] Chr11:32456593 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.170G>A (p.Arg57His) |
single nucleotide variant |
Drash syndrome [RCV001060840] |
Chr11:32435191 [GRCh38] Chr11:32456737 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.301G>C (p.Val101Leu) |
single nucleotide variant |
Drash syndrome [RCV001060865] |
Chr11:32435060 [GRCh38] Chr11:32456606 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.379C>A (p.Pro127Thr) |
single nucleotide variant |
Drash syndrome [RCV000533914] |
Chr11:32434982 [GRCh38] Chr11:32456528 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.-87C>T |
single nucleotide variant |
Meacham syndrome [RCV001102909]|Nephrotic syndrome, type 4 [RCV001104831]|Wilms tumor 1 [RCV001104832] |
Chr11:32435447 [GRCh38] Chr11:32456993 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.546C>A (p.Tyr182Ter) |
single nucleotide variant |
Wilms tumor 1 [RCV000003681] |
Chr11:32434815 [GRCh38] Chr11:32456361 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.576G>T (p.Gln192His) |
single nucleotide variant |
Chronic kidney disease [RCV001171346] |
Chr11:32434785 [GRCh38] Chr11:32456331 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.71G>A (p.Arg24His) |
single nucleotide variant |
Drash syndrome [RCV001041139] |
Chr11:32435290 [GRCh38] Chr11:32456836 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.548G>A (p.Gly183Glu) |
single nucleotide variant |
Drash syndrome [RCV000458873] |
Chr11:32434813 [GRCh38] Chr11:32456359 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) |
single nucleotide variant |
Aniridia 1 [RCV000763735]|Disorder of sexual differentiation [RCV001568364]|Drash syndrome [RCV000545211]|Drash syndrome [RCV003459256]|WT1-related disorder [RCV004740323]|Wilms tumor 1 [RCV000709150]|not provided [RCV003139859] |
Chr11:32435047 [GRCh38] Chr11:32456593 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.562C>T (p.Pro188Ser) |
single nucleotide variant |
Wilms tumor 1 [RCV000709144] |
Chr11:32434799 [GRCh38] Chr11:32456345 [GRCh37] Chr11:11p13 |
uncertain significance |
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 |
copy number loss |
See cases [RCV000135295] |
Chr11:26368962..35252976 [GRCh38] Chr11:26390509..35274523 [GRCh37] Chr11:26347085..35231099 [NCBI36] Chr11:11p14.2-13 |
pathogenic |
NM_024426.6(WT1):c.250C>T (p.Leu84=) |
single nucleotide variant |
Drash syndrome [RCV003770342]|Nephrotic syndrome, type 4 [RCV001257278] |
Chr11:32435111 [GRCh38] Chr11:32456657 [GRCh37] Chr11:11p13 |
pathogenic|likely benign |
NM_024426.6(WT1):c.304A>G (p.Ser102Gly) |
single nucleotide variant |
Drash syndrome [RCV001067433] |
Chr11:32435057 [GRCh38] Chr11:32456603 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.25C>A (p.Pro9Thr) |
single nucleotide variant |
Drash syndrome [RCV001052969] |
Chr11:32435336 [GRCh38] Chr11:32456882 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.628T>G (p.Cys210Gly) |
single nucleotide variant |
Aniridia 1 [RCV002489702]|Drash syndrome [RCV001068227]|Drash syndrome [RCV004570294]|Wilms tumor 1 [RCV001331298] |
Chr11:32434733 [GRCh38] Chr11:32456279 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.439C>G (p.Gln147Glu) |
single nucleotide variant |
Aniridia 1 [RCV002489024]|Drash syndrome [RCV000463292]|Drash syndrome [RCV004567977]|Hereditary cancer-predisposing syndrome [RCV002256257]|Wilms tumor 1 [RCV004000753]|not provided [RCV004696207] |
Chr11:32434922 [GRCh38] Chr11:32456468 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.450C>A (p.Ser150Arg) |
single nucleotide variant |
Drash syndrome [RCV000547890] |
Chr11:32434911 [GRCh38] Chr11:32456457 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.405_422dup (p.Pro136_Pro141dup) |
duplication |
Drash syndrome [RCV001066360] |
Chr11:32434938..32434939 [GRCh38] Chr11:32456484..32456485 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.592del (p.Ala198fs) |
deletion |
Wilms tumor 1 [RCV000494637] |
Chr11:32434769 [GRCh38] Chr11:32456315 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.393G>T (p.Pro131=) |
single nucleotide variant |
Drash syndrome [RCV000559087] |
Chr11:32434968 [GRCh38] Chr11:32456514 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.109G>A (p.Gly37Arg) |
single nucleotide variant |
Drash syndrome [RCV001035107]|not provided [RCV003233928] |
Chr11:32435252 [GRCh38] Chr11:32456798 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup) |
duplication |
Drash syndrome [RCV001058612]|not provided [RCV003160474] |
Chr11:32434944..32434945 [GRCh38] Chr11:32456490..32456491 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.334del (p.Asp112fs) |
deletion |
Drash syndrome [RCV000557914] |
Chr11:32435027 [GRCh38] Chr11:32456573 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr) |
indel |
Aniridia 1 [RCV002493051]|Drash syndrome [RCV000653782]|Drash syndrome [RCV004568466]|Hereditary cancer-predisposing syndrome [RCV002257918]|not provided [RCV003228973] |
Chr11:32435332..32435333 [GRCh38] Chr11:32456878..32456879 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.659A>G (p.Gln220Arg) |
single nucleotide variant |
Drash syndrome [RCV000653793] |
Chr11:32434702 [GRCh38] Chr11:32456248 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.86G>A (p.Cys29Tyr) |
single nucleotide variant |
Drash syndrome [RCV000653796]|Wilms tumor 1 [RCV004004101]|not provided [RCV004773077] |
Chr11:32435275 [GRCh38] Chr11:32456821 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.200C>T (p.Ser67Phe) |
single nucleotide variant |
Drash syndrome [RCV000653805] |
Chr11:32435161 [GRCh38] Chr11:32456707 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.300T>A (p.Pro100=) |
single nucleotide variant |
Drash syndrome [RCV000653806] |
Chr11:32435061 [GRCh38] Chr11:32456607 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.381C>T (p.Pro127=) |
single nucleotide variant |
Drash syndrome [RCV000653807] |
Chr11:32434980 [GRCh38] Chr11:32456526 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.87C>T (p.Cys29=) |
single nucleotide variant |
Drash syndrome [RCV000653824] |
Chr11:32435274 [GRCh38] Chr11:32456820 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.296T>C (p.Leu99Pro) |
single nucleotide variant |
Drash syndrome [RCV000684858] |
Chr11:32435065 [GRCh38] Chr11:32456611 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.397C>A (p.Pro133Thr) |
single nucleotide variant |
Drash syndrome [RCV000686252]|Drash syndrome [RCV003465557]|Wilms tumor 1 [RCV004004245]|not provided [RCV003233816] |
Chr11:32434964 [GRCh38] Chr11:32456510 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.118G>C (p.Asp40His) |
single nucleotide variant |
Drash syndrome [RCV001068367] |
Chr11:32435243 [GRCh38] Chr11:32456789 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.203G>A (p.Gly68Glu) |
single nucleotide variant |
Aniridia 1 [RCV002493050]|Drash syndrome [RCV000653781]|Drash syndrome [RCV004568465]|not provided [RCV003442006] |
Chr11:32435158 [GRCh38] Chr11:32456704 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.478C>T (p.Gln160Ter) |
single nucleotide variant |
Drash syndrome [RCV000653788] |
Chr11:32434883 [GRCh38] Chr11:32456429 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.307G>T (p.Gly103Cys) |
single nucleotide variant |
Drash syndrome [RCV000653795]|Wilms tumor 1 [RCV004004100] |
Chr11:32435054 [GRCh38] Chr11:32456600 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.355T>C (p.Ser119Pro) |
single nucleotide variant |
Drash syndrome [RCV000653802]|Drash syndrome [RCV004568467] |
Chr11:32435006 [GRCh38] Chr11:32456552 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.531C>T (p.Ala177=) |
single nucleotide variant |
Drash syndrome [RCV001405443] |
Chr11:32434830 [GRCh38] Chr11:32456376 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.633C>T (p.Leu211=) |
single nucleotide variant |
Drash syndrome [RCV000653814] |
Chr11:32434728 [GRCh38] Chr11:32456274 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.75C>T (p.Ser25=) |
single nucleotide variant |
Drash syndrome [RCV000653821]|WT1-related disorder [RCV004547828] |
Chr11:32435286 [GRCh38] Chr11:32456832 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.480G>A (p.Gln160=) |
single nucleotide variant |
Drash syndrome [RCV000653822]|Wilms tumor 1 [RCV004004108] |
Chr11:32434881 [GRCh38] Chr11:32456427 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.499G>A (p.Val167Ile) |
single nucleotide variant |
Drash syndrome [RCV001301457]|Drash syndrome [RCV003469525] |
Chr11:32434862 [GRCh38] Chr11:32456408 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.216G>C (p.Gln72His) |
single nucleotide variant |
Drash syndrome [RCV001317936] |
Chr11:32435145 [GRCh38] Chr11:32456691 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.575A>G (p.Gln192Arg) |
single nucleotide variant |
Drash syndrome [RCV001296183]|Wilms tumor 1 [RCV004004965] |
Chr11:32434786 [GRCh38] Chr11:32456332 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.191G>A (p.Arg64His) |
single nucleotide variant |
Drash syndrome [RCV001307575] |
Chr11:32435170 [GRCh38] Chr11:32456716 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.197C>A (p.Ala66Glu) |
single nucleotide variant |
Drash syndrome [RCV001349022]|Drash syndrome [RCV003462916]|Wilms tumor 1 [RCV004005227]|not specified [RCV002246328] |
Chr11:32435164 [GRCh38] Chr11:32456710 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.127G>T (p.Gly43Cys) |
single nucleotide variant |
Drash syndrome [RCV001307032] |
Chr11:32435234 [GRCh38] Chr11:32456780 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.319T>G (p.Trp107Gly) |
single nucleotide variant |
Drash syndrome [RCV001321766] |
Chr11:32435042 [GRCh38] Chr11:32456588 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.154G>A (p.Glu52Lys) |
single nucleotide variant |
Drash syndrome [RCV001343856]|Wilms tumor 1 [RCV002291749] |
Chr11:32435207 [GRCh38] Chr11:32456753 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.75C>G (p.Ser25=) |
single nucleotide variant |
Drash syndrome [RCV001396494] |
Chr11:32435286 [GRCh38] Chr11:32456832 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.150del (p.Ala51fs) |
deletion |
Drash syndrome [RCV001370770] |
Chr11:32435211 [GRCh38] Chr11:32456757 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.51G>C (p.Pro17=) |
single nucleotide variant |
Drash syndrome [RCV001392712] |
Chr11:32435310 [GRCh38] Chr11:32456856 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.118del (p.Asp40fs) |
deletion |
Drash syndrome [RCV001362505] |
Chr11:32435243 [GRCh38] Chr11:32456789 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.393_407del (p.Ala132_Pro136del) |
deletion |
Drash syndrome [RCV001372846] |
Chr11:32434954..32434968 [GRCh38] Chr11:32456500..32456514 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.350G>A (p.Gly117Asp) |
single nucleotide variant |
Drash syndrome [RCV001324569]|Wilms tumor 1 [RCV004005124] |
Chr11:32435011 [GRCh38] Chr11:32456557 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.566C>T (p.Pro189Leu) |
single nucleotide variant |
Drash syndrome [RCV001372968] |
Chr11:32434795 [GRCh38] Chr11:32456341 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.310G>A (p.Ala104Thr) |
single nucleotide variant |
Drash syndrome [RCV001324646] |
Chr11:32435051 [GRCh38] Chr11:32456597 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.393_407dup (p.Ala132_Pro136dup) |
duplication |
Drash syndrome [RCV001346379] |
Chr11:32434953..32434954 [GRCh38] Chr11:32456499..32456500 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.496A>G (p.Thr166Ala) |
single nucleotide variant |
Drash syndrome [RCV001344758] |
Chr11:32434865 [GRCh38] Chr11:32456411 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.169C>A (p.Arg57Ser) |
single nucleotide variant |
Drash syndrome [RCV001360736] |
Chr11:32435192 [GRCh38] Chr11:32456738 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.649A>C (p.Ile217Leu) |
single nucleotide variant |
Drash syndrome [RCV001306604]|Wilms tumor 1 [RCV004005037] |
Chr11:32434712 [GRCh38] Chr11:32456258 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.377G>C (p.Gly126Ala) |
single nucleotide variant |
Drash syndrome [RCV001367563] |
Chr11:32434984 [GRCh38] Chr11:32456530 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.194G>A (p.Gly65Glu) |
single nucleotide variant |
Drash syndrome [RCV001327560] |
Chr11:32435167 [GRCh38] Chr11:32456713 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.413C>A (p.Pro138Gln) |
single nucleotide variant |
Drash syndrome [RCV001345356] |
Chr11:32434948 [GRCh38] Chr11:32456494 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.24C>A (p.Asp8Glu) |
single nucleotide variant |
Drash syndrome [RCV001322486] |
Chr11:32435337 [GRCh38] Chr11:32456883 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.593C>T (p.Ala198Val) |
single nucleotide variant |
Drash syndrome [RCV001322504] |
Chr11:32434768 [GRCh38] Chr11:32456314 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.44C>T (p.Pro15Leu) |
single nucleotide variant |
Drash syndrome [RCV001373013] |
Chr11:32435317 [GRCh38] Chr11:32456863 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.595A>G (p.Arg199Gly) |
single nucleotide variant |
Drash syndrome [RCV001359662] |
Chr11:32434766 [GRCh38] Chr11:32456312 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.650T>G (p.Ile217Ser) |
single nucleotide variant |
Drash syndrome [RCV001343121]|Wilms tumor 1 [RCV004005183] |
Chr11:32434711 [GRCh38] Chr11:32456257 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.467C>T (p.Pro156Leu) |
single nucleotide variant |
Drash syndrome [RCV001347948] |
Chr11:32434894 [GRCh38] Chr11:32456440 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.661+10C>T |
single nucleotide variant |
Drash syndrome [RCV001295153] |
Chr11:32434690 [GRCh38] Chr11:32456236 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.151G>A (p.Ala51Thr) |
single nucleotide variant |
Drash syndrome [RCV001306241]|Wilms tumor 1 [RCV004005035] |
Chr11:32435210 [GRCh38] Chr11:32456756 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.242T>G (p.Leu81Arg) |
single nucleotide variant |
Drash syndrome [RCV001367504] |
Chr11:32435119 [GRCh38] Chr11:32456665 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.76G>C (p.Gly26Arg) |
single nucleotide variant |
Drash syndrome [RCV001363977] |
Chr11:32435285 [GRCh38] Chr11:32456831 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.343C>A (p.Pro115Thr) |
single nucleotide variant |
Drash syndrome [RCV001339618] |
Chr11:32435018 [GRCh38] Chr11:32456564 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.189C>A (p.Ser63Arg) |
single nucleotide variant |
Drash syndrome [RCV001366124]|Wilms tumor 1 [RCV004006795] |
Chr11:32435172 [GRCh38] Chr11:32456718 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.202G>C (p.Gly68Arg) |
single nucleotide variant |
Drash syndrome [RCV001366196] |
Chr11:32435159 [GRCh38] Chr11:32456705 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.449G>A (p.Ser150Asn) |
single nucleotide variant |
Drash syndrome [RCV001308847]|Drash syndrome [RCV004570730] |
Chr11:32434912 [GRCh38] Chr11:32456458 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.32C>G (p.Ser11Cys) |
single nucleotide variant |
Drash syndrome [RCV001366357]|Drash syndrome [RCV004570893] |
Chr11:32435329 [GRCh38] Chr11:32456875 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.631C>T (p.Leu211Phe) |
single nucleotide variant |
Drash syndrome [RCV001340140] |
Chr11:32434730 [GRCh38] Chr11:32456276 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.215A>T (p.Gln72Leu) |
single nucleotide variant |
Drash syndrome [RCV001366531] |
Chr11:32435146 [GRCh38] Chr11:32456692 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.446C>G (p.Pro149Arg) |
single nucleotide variant |
Drash syndrome [RCV001325596] |
Chr11:32434915 [GRCh38] Chr11:32456461 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.108G>A (p.Gln36=) |
single nucleotide variant |
Drash syndrome [RCV001414134] |
Chr11:32435253 [GRCh38] Chr11:32456799 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+8G>A |
single nucleotide variant |
Drash syndrome [RCV001327234]|not specified [RCV002246301] |
Chr11:32434692 [GRCh38] Chr11:32456238 [GRCh37] Chr11:11p13 |
benign|likely benign|uncertain significance |
NM_024426.6(WT1):c.563C>T (p.Pro188Leu) |
single nucleotide variant |
Drash syndrome [RCV001367350] |
Chr11:32434798 [GRCh38] Chr11:32456344 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.329T>C (p.Val110Ala) |
single nucleotide variant |
Drash syndrome [RCV001369106] |
Chr11:32435032 [GRCh38] Chr11:32456578 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.356C>G (p.Ser119Trp) |
single nucleotide variant |
Drash syndrome [RCV001317608] |
Chr11:32435005 [GRCh38] Chr11:32456551 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.368C>T (p.Ser123Leu) |
single nucleotide variant |
Drash syndrome [RCV001366006] |
Chr11:32434993 [GRCh38] Chr11:32456539 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.369G>A (p.Ser123=) |
single nucleotide variant |
Drash syndrome [RCV001501560] |
Chr11:32434992 [GRCh38] Chr11:32456538 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.618C>T (p.Tyr206=) |
single nucleotide variant |
Drash syndrome [RCV001475061] |
Chr11:32434743 [GRCh38] Chr11:32456289 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.291T>C (p.Cys97=) |
single nucleotide variant |
Drash syndrome [RCV001467173] |
Chr11:32435070 [GRCh38] Chr11:32456616 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.582A>C (p.Ser194=) |
single nucleotide variant |
Drash syndrome [RCV001503253] |
Chr11:32434779 [GRCh38] Chr11:32456325 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.342G>C (p.Ala114=) |
single nucleotide variant |
Drash syndrome [RCV001491642] |
Chr11:32435019 [GRCh38] Chr11:32456565 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.117G>A (p.Arg39=) |
single nucleotide variant |
Drash syndrome [RCV001492998]|Wilms tumor 1 [RCV004007180] |
Chr11:32435244 [GRCh38] Chr11:32456790 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.231C>T (p.Asp77=) |
single nucleotide variant |
Drash syndrome [RCV001493014] |
Chr11:32435130 [GRCh38] Chr11:32456676 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.297G>A (p.Leu99=) |
single nucleotide variant |
Drash syndrome [RCV001467610] |
Chr11:32435064 [GRCh38] Chr11:32456610 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.582A>T (p.Ser194=) |
single nucleotide variant |
Drash syndrome [RCV001478636] |
Chr11:32434779 [GRCh38] Chr11:32456325 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.455del (p.Gly152fs) |
deletion |
Drash syndrome [RCV001389217]|Wilms tumor 1 [RCV002259392] |
Chr11:32434906 [GRCh38] Chr11:32456452 [GRCh37] Chr11:11p13 |
pathogenic|likely pathogenic |
NM_024426.6(WT1):c.393G>C (p.Pro131=) |
single nucleotide variant |
Drash syndrome [RCV001448476] |
Chr11:32434968 [GRCh38] Chr11:32456514 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.339T>C (p.Phe113=) |
single nucleotide variant |
Drash syndrome [RCV001412044] |
Chr11:32435022 [GRCh38] Chr11:32456568 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.369G>T (p.Ser123=) |
single nucleotide variant |
Drash syndrome [RCV001427936] |
Chr11:32434992 [GRCh38] Chr11:32456538 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.471C>T (p.His157=) |
single nucleotide variant |
Drash syndrome [RCV001417092]|Wilms tumor 1 [RCV004006942] |
Chr11:32434890 [GRCh38] Chr11:32456436 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.612G>T (p.Ala204=) |
single nucleotide variant |
Drash syndrome [RCV001418952] |
Chr11:32434749 [GRCh38] Chr11:32456295 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.462G>A (p.Ala154=) |
single nucleotide variant |
Drash syndrome [RCV001403047] |
Chr11:32434899 [GRCh38] Chr11:32456445 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.429C>T (p.Ser143=) |
single nucleotide variant |
Drash syndrome [RCV001410401]|Wilms tumor 1 [RCV004006919] |
Chr11:32434932 [GRCh38] Chr11:32456478 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.597G>A (p.Arg199=) |
single nucleotide variant |
Drash syndrome [RCV001445071] |
Chr11:32434764 [GRCh38] Chr11:32456310 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.417G>T (p.Pro139=) |
single nucleotide variant |
Drash syndrome [RCV001419591] |
Chr11:32434944 [GRCh38] Chr11:32456490 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.241C>T (p.Leu81=) |
single nucleotide variant |
Drash syndrome [RCV001429534] |
Chr11:32435120 [GRCh38] Chr11:32456666 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.99A>G (p.Pro33=) |
single nucleotide variant |
Drash syndrome [RCV001440434]|WT1-related disorder [RCV004550173]|Wilms tumor 1 [RCV004007013] |
Chr11:32435262 [GRCh38] Chr11:32456808 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.331C>T (p.Leu111=) |
single nucleotide variant |
Drash syndrome [RCV001472966] |
Chr11:32435030 [GRCh38] Chr11:32456576 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+9G>A |
single nucleotide variant |
Drash syndrome [RCV001499282] |
Chr11:32434691 [GRCh38] Chr11:32456237 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.294C>T (p.Ala98=) |
single nucleotide variant |
Drash syndrome [RCV001479613]|Hereditary cancer-predisposing syndrome [RCV002256791] |
Chr11:32435067 [GRCh38] Chr11:32456613 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.510C>T (p.Ser170=) |
single nucleotide variant |
Drash syndrome [RCV001487497]|Wilms tumor 1 [RCV004007164] |
Chr11:32434851 [GRCh38] Chr11:32456397 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.474G>A (p.Glu158=) |
single nucleotide variant |
Drash syndrome [RCV001460084] |
Chr11:32434887 [GRCh38] Chr11:32456433 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.198G>T (p.Ala66=) |
single nucleotide variant |
Drash syndrome [RCV001497535]|Wilms tumor 1 [RCV004007197] |
Chr11:32435163 [GRCh38] Chr11:32456709 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.336C>T (p.Asp112=) |
single nucleotide variant |
Drash syndrome [RCV001463507] |
Chr11:32435025 [GRCh38] Chr11:32456571 [GRCh37] Chr11:11p13 |
likely benign |
NC_000011.10:g.32435840C>A |
single nucleotide variant |
not provided [RCV001590155] |
Chr11:32435840 [GRCh38] Chr11:32457386 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.261C>T (p.Ala87=) |
single nucleotide variant |
Drash syndrome [RCV001484999] |
Chr11:32435100 [GRCh38] Chr11:32456646 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.120C>T (p.Asp40=) |
single nucleotide variant |
Drash syndrome [RCV001436080] |
Chr11:32435241 [GRCh38] Chr11:32456787 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.588C>A (p.Gly196=) |
single nucleotide variant |
Drash syndrome [RCV001487158] |
Chr11:32434773 [GRCh38] Chr11:32456319 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.549G>A (p.Gly183=) |
single nucleotide variant |
Drash syndrome [RCV001467489]|Wilms tumor 1 [RCV004007106] |
Chr11:32434812 [GRCh38] Chr11:32456358 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.249G>A (p.Ala83=) |
single nucleotide variant |
Drash syndrome [RCV001483267] |
Chr11:32435112 [GRCh38] Chr11:32456658 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.633C>G (p.Leu211=) |
single nucleotide variant |
Drash syndrome [RCV001459047] |
Chr11:32434728 [GRCh38] Chr11:32456274 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.327G>C (p.Pro109=) |
single nucleotide variant |
Drash syndrome [RCV001503626]|Wilms tumor 1 [RCV004007218] |
Chr11:32435034 [GRCh38] Chr11:32456580 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.123G>A (p.Pro41=) |
single nucleotide variant |
Drash syndrome [RCV001427444] |
Chr11:32435238 [GRCh38] Chr11:32456784 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.652C>T (p.Arg218Cys) |
single nucleotide variant |
Drash syndrome [RCV003106991] |
Chr11:32434709 [GRCh38] Chr11:32456255 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.156G>T (p.Glu52Asp) |
single nucleotide variant |
not specified [RCV002246898] |
Chr11:32435205 [GRCh38] Chr11:32456751 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.661+18C>A |
single nucleotide variant |
not provided [RCV003237623] |
Chr11:32434682 [GRCh38] Chr11:32456228 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.482G>T (p.Cys161Phe) |
single nucleotide variant |
Drash syndrome [RCV001875288] |
Chr11:32434879 [GRCh38] Chr11:32456425 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.659A>T (p.Gln220Leu) |
single nucleotide variant |
Drash syndrome [RCV001994968] |
Chr11:32434702 [GRCh38] Chr11:32456248 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.64A>G (p.Thr22Ala) |
single nucleotide variant |
Drash syndrome [RCV001863605] |
Chr11:32435297 [GRCh38] Chr11:32456843 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.661+15G>T |
single nucleotide variant |
Aniridia 1 [RCV002486588]|Drash syndrome [RCV001999145] |
Chr11:32434685 [GRCh38] Chr11:32456231 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.490G>C (p.Ala164Pro) |
single nucleotide variant |
Drash syndrome [RCV002005490] |
Chr11:32434871 [GRCh38] Chr11:32456417 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.277GGC[5] (p.Gly96dup) |
microsatellite |
Drash syndrome [RCV002012045]|Wilms tumor 1 [RCV004010975] |
Chr11:32435072..32435073 [GRCh38] Chr11:32456618..32456619 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.35C>T (p.Thr12Met) |
single nucleotide variant |
Drash syndrome [RCV002034216] |
Chr11:32435326 [GRCh38] Chr11:32456872 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.599T>G (p.Met200Arg) |
single nucleotide variant |
Drash syndrome [RCV002038406] |
Chr11:32434762 [GRCh38] Chr11:32456308 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.46G>A (p.Glu16Lys) |
single nucleotide variant |
Drash syndrome [RCV002045943] |
Chr11:32435315 [GRCh38] Chr11:32456861 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.19C>A (p.Gln7Lys) |
single nucleotide variant |
Drash syndrome [RCV002009830] |
Chr11:32435342 [GRCh38] Chr11:32456888 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.401C>G (p.Pro134Arg) |
single nucleotide variant |
Drash syndrome [RCV002014474] |
Chr11:32434960 [GRCh38] Chr11:32456506 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.262G>A (p.Val88Ile) |
single nucleotide variant |
Drash syndrome [RCV002010960]|Wilms tumor 1 [RCV004011114] |
Chr11:32435099 [GRCh38] Chr11:32456645 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.177G>C (p.Gln59His) |
single nucleotide variant |
Drash syndrome [RCV002021760] |
Chr11:32435184 [GRCh38] Chr11:32456730 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.565C>G (p.Pro189Ala) |
single nucleotide variant |
Drash syndrome [RCV002026437] |
Chr11:32434796 [GRCh38] Chr11:32456342 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.67C>T (p.Leu23Phe) |
single nucleotide variant |
Drash syndrome [RCV002030257] |
Chr11:32435294 [GRCh38] Chr11:32456840 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.164_165delinsTG (p.Ala55Val) |
indel |
Drash syndrome [RCV002031406] |
Chr11:32435196..32435197 [GRCh38] Chr11:32456742..32456743 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.503A>G (p.His168Arg) |
single nucleotide variant |
Drash syndrome [RCV002029101] |
Chr11:32434858 [GRCh38] Chr11:32456404 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.363C>T (p.Tyr121=) |
single nucleotide variant |
Drash syndrome [RCV002000596]|Wilms tumor 1 [RCV004011050] |
Chr11:32434998 [GRCh38] Chr11:32456544 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.405_419del (p.Pro137_Pro141del) |
deletion |
Drash syndrome [RCV002046655] |
Chr11:32434942..32434956 [GRCh38] Chr11:32456488..32456502 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro) |
indel |
Drash syndrome [RCV002023068] |
Chr11:32435327..32435328 [GRCh38] Chr11:32456873..32456874 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.286G>T (p.Gly96Cys) |
single nucleotide variant |
Drash syndrome [RCV002014728] |
Chr11:32435075 [GRCh38] Chr11:32456621 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.400C>T (p.Pro134Ser) |
single nucleotide variant |
Drash syndrome [RCV001983890] |
Chr11:32434961 [GRCh38] Chr11:32456507 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.62A>G (p.His21Arg) |
single nucleotide variant |
Drash syndrome [RCV001984564] |
Chr11:32435299 [GRCh38] Chr11:32456845 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.566C>G (p.Pro189Arg) |
single nucleotide variant |
Drash syndrome [RCV001968533]|not provided [RCV002307819] |
Chr11:32434795 [GRCh38] Chr11:32456341 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.489C>A (p.Ser163Arg) |
single nucleotide variant |
Drash syndrome [RCV001971136] |
Chr11:32434872 [GRCh38] Chr11:32456418 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.477G>C (p.Glu159Asp) |
single nucleotide variant |
Drash syndrome [RCV001892642] |
Chr11:32434884 [GRCh38] Chr11:32456430 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.185G>A (p.Arg62Lys) |
single nucleotide variant |
Drash syndrome [RCV001922600] |
Chr11:32435176 [GRCh38] Chr11:32456722 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.376G>T (p.Gly126Cys) |
single nucleotide variant |
Drash syndrome [RCV001952868] |
Chr11:32434985 [GRCh38] Chr11:32456531 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.652C>A (p.Arg218Ser) |
single nucleotide variant |
Drash syndrome [RCV001929619] |
Chr11:32434709 [GRCh38] Chr11:32456255 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.488G>A (p.Ser163Asn) |
single nucleotide variant |
Drash syndrome [RCV001929946] |
Chr11:32434873 [GRCh38] Chr11:32456419 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.241C>A (p.Leu81Met) |
single nucleotide variant |
Drash syndrome [RCV001955143] |
Chr11:32435120 [GRCh38] Chr11:32456666 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.433A>G (p.Ile145Val) |
single nucleotide variant |
Drash syndrome [RCV001967933] |
Chr11:32434928 [GRCh38] Chr11:32456474 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.376G>A (p.Gly126Ser) |
single nucleotide variant |
Drash syndrome [RCV001883890] |
Chr11:32434985 [GRCh38] Chr11:32456531 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.151_152delinsAA (p.Ala51Asn) |
indel |
Drash syndrome [RCV001968739] |
Chr11:32435209..32435210 [GRCh38] Chr11:32456755..32456756 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.611C>T (p.Ala204Val) |
single nucleotide variant |
Drash syndrome [RCV001944358] |
Chr11:32434750 [GRCh38] Chr11:32456296 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.471C>G (p.His157Gln) |
single nucleotide variant |
Drash syndrome [RCV001887075] |
Chr11:32434890 [GRCh38] Chr11:32456436 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.293C>T (p.Ala98Val) |
single nucleotide variant |
Drash syndrome [RCV001944280]|Drash syndrome [RCV003464259] |
Chr11:32435068 [GRCh38] Chr11:32456614 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.635A>G (p.Glu212Gly) |
single nucleotide variant |
Drash syndrome [RCV001974065] |
Chr11:32434726 [GRCh38] Chr11:32456272 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.584C>T (p.Ser195Phe) |
single nucleotide variant |
Drash syndrome [RCV001889290] |
Chr11:32434777 [GRCh38] Chr11:32456323 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.520A>G (p.Thr174Ala) |
single nucleotide variant |
Drash syndrome [RCV001946529] |
Chr11:32434841 [GRCh38] Chr11:32456387 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.289T>C (p.Cys97Arg) |
single nucleotide variant |
Drash syndrome [RCV001924298] |
Chr11:32435072 [GRCh38] Chr11:32456618 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.112G>T (p.Val38Phe) |
single nucleotide variant |
Drash syndrome [RCV001924167] |
Chr11:32435249 [GRCh38] Chr11:32456795 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.577G>C (p.Ala193Pro) |
single nucleotide variant |
Drash syndrome [RCV001989456] |
Chr11:32434784 [GRCh38] Chr11:32456330 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.162C>A (p.Ser54Arg) |
single nucleotide variant |
Drash syndrome [RCV001931279] |
Chr11:32435199 [GRCh38] Chr11:32456745 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.581C>T (p.Ser194Leu) |
single nucleotide variant |
Drash syndrome [RCV001910582] |
Chr11:32434780 [GRCh38] Chr11:32456326 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.425A>T (p.His142Leu) |
single nucleotide variant |
Drash syndrome [RCV001911537] |
Chr11:32434936 [GRCh38] Chr11:32456482 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.406C>A (p.Pro136Thr) |
single nucleotide variant |
Drash syndrome [RCV001939994]|Drash syndrome [RCV003471039] |
Chr11:32434955 [GRCh38] Chr11:32456501 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.258C>A (p.Pro86=) |
single nucleotide variant |
Drash syndrome [RCV001914702] |
Chr11:32435103 [GRCh38] Chr11:32456649 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.276del (p.Gly93fs) |
deletion |
Drash syndrome [RCV001941604] |
Chr11:32435085 [GRCh38] Chr11:32456631 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.535G>A (p.Ala179Thr) |
single nucleotide variant |
Drash syndrome [RCV001971295]|not provided [RCV004770335]|not specified [RCV002246635] |
Chr11:32434826 [GRCh38] Chr11:32456372 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.459C>T (p.Gly153=) |
single nucleotide variant |
Aniridia 1 [RCV002507027]|Drash syndrome [RCV001913745] |
Chr11:32434902 [GRCh38] Chr11:32456448 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.314_318dup (p.Trp107fs) |
duplication |
Drash syndrome [RCV001972489] |
Chr11:32435042..32435043 [GRCh38] Chr11:32456588..32456589 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.627C>G (p.Ser209Arg) |
single nucleotide variant |
Drash syndrome [RCV001885911] |
Chr11:32434734 [GRCh38] Chr11:32456280 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.211C>T (p.Pro71Ser) |
single nucleotide variant |
Drash syndrome [RCV001922394] |
Chr11:32435150 [GRCh38] Chr11:32456696 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.390_401dup (p.128APPP[3]) |
duplication |
Drash syndrome [RCV001892370] |
Chr11:32434959..32434960 [GRCh38] Chr11:32456505..32456506 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.472G>A (p.Glu158Lys) |
single nucleotide variant |
Drash syndrome [RCV001896304] |
Chr11:32434889 [GRCh38] Chr11:32456435 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.505T>C (p.Phe169Leu) |
single nucleotide variant |
Drash syndrome [RCV001899146] |
Chr11:32434856 [GRCh38] Chr11:32456402 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.589C>A (p.Gln197Lys) |
single nucleotide variant |
Drash syndrome [RCV001978499] |
Chr11:32434772 [GRCh38] Chr11:32456318 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.19C>T (p.Gln7Ter) |
single nucleotide variant |
Drash syndrome [RCV001979708] |
Chr11:32435342 [GRCh38] Chr11:32456888 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.467C>A (p.Pro156Gln) |
single nucleotide variant |
Drash syndrome [RCV001977729] |
Chr11:32434894 [GRCh38] Chr11:32456440 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.284G>T (p.Gly95Val) |
single nucleotide variant |
Drash syndrome [RCV001904567]|Wilms tumor 1 [RCV004009208]|not provided [RCV003164106] |
Chr11:32435077 [GRCh38] Chr11:32456623 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.426C>G (p.His142Gln) |
single nucleotide variant |
Drash syndrome [RCV001923870] |
Chr11:32434935 [GRCh38] Chr11:32456481 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.176A>G (p.Gln59Arg) |
single nucleotide variant |
Drash syndrome [RCV001902527] |
Chr11:32435185 [GRCh38] Chr11:32456731 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.572G>C (p.Ser191Thr) |
single nucleotide variant |
Drash syndrome [RCV001985823] |
Chr11:32434789 [GRCh38] Chr11:32456335 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.655A>C (p.Asn219His) |
single nucleotide variant |
Drash syndrome [RCV001963647] |
Chr11:32434706 [GRCh38] Chr11:32456252 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.53C>T (p.Ala18Val) |
single nucleotide variant |
Drash syndrome [RCV001945688] |
Chr11:32435308 [GRCh38] Chr11:32456854 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.477G>A (p.Glu159=) |
single nucleotide variant |
Drash syndrome [RCV002167695] |
Chr11:32434884 [GRCh38] Chr11:32456430 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.126C>T (p.Gly42=) |
single nucleotide variant |
Drash syndrome [RCV002104597] |
Chr11:32435235 [GRCh38] Chr11:32456781 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.510C>G (p.Ser170=) |
single nucleotide variant |
Drash syndrome [RCV002088180] |
Chr11:32434851 [GRCh38] Chr11:32456397 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+7A>G |
single nucleotide variant |
Drash syndrome [RCV002191875] |
Chr11:32434693 [GRCh38] Chr11:32456239 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+18C>T |
single nucleotide variant |
Drash syndrome [RCV002105722] |
Chr11:32434682 [GRCh38] Chr11:32456228 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.270C>T (p.Ser90=) |
single nucleotide variant |
Drash syndrome [RCV002127955] |
Chr11:32435091 [GRCh38] Chr11:32456637 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.369G>C (p.Ser123=) |
single nucleotide variant |
Drash syndrome [RCV002209987] |
Chr11:32434992 [GRCh38] Chr11:32456538 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.342G>T (p.Ala114=) |
single nucleotide variant |
Drash syndrome [RCV002172501] |
Chr11:32435019 [GRCh38] Chr11:32456565 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.315G>T (p.Ala105=) |
single nucleotide variant |
Drash syndrome [RCV002116768]|Hereditary cancer-predisposing syndrome [RCV002258378] |
Chr11:32435046 [GRCh38] Chr11:32456592 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.138C>A (p.Ala46=) |
single nucleotide variant |
Drash syndrome [RCV002131276] |
Chr11:32435223 [GRCh38] Chr11:32456769 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.333G>T (p.Leu111=) |
single nucleotide variant |
Drash syndrome [RCV002153384]|not provided [RCV002264471] |
Chr11:32435028 [GRCh38] Chr11:32456574 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.33C>T (p.Ser11=) |
single nucleotide variant |
Drash syndrome [RCV002194785] |
Chr11:32435328 [GRCh38] Chr11:32456874 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.225C>G (p.Gly75=) |
single nucleotide variant |
Drash syndrome [RCV002167561] |
Chr11:32435136 [GRCh38] Chr11:32456682 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.225C>T (p.Gly75=) |
single nucleotide variant |
Drash syndrome [RCV002095273] |
Chr11:32435136 [GRCh38] Chr11:32456682 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+19G>A |
single nucleotide variant |
Drash syndrome [RCV002092376] |
Chr11:32434681 [GRCh38] Chr11:32456227 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.282C>T (p.Gly94=) |
single nucleotide variant |
Drash syndrome [RCV002172270] |
Chr11:32435079 [GRCh38] Chr11:32456625 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+9G>T |
single nucleotide variant |
Drash syndrome [RCV002134846] |
Chr11:32434691 [GRCh38] Chr11:32456237 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.147C>A (p.Gly49=) |
single nucleotide variant |
Drash syndrome [RCV002194629] |
Chr11:32435214 [GRCh38] Chr11:32456760 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+11del |
deletion |
Drash syndrome [RCV002115359] |
Chr11:32434689 [GRCh38] Chr11:32456235 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.228C>T (p.Ser76=) |
single nucleotide variant |
Drash syndrome [RCV002096667] |
Chr11:32435133 [GRCh38] Chr11:32456679 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.468G>A (p.Pro156=) |
single nucleotide variant |
Drash syndrome [RCV002115563] |
Chr11:32434893 [GRCh38] Chr11:32456439 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.456C>A (p.Gly152=) |
single nucleotide variant |
Drash syndrome [RCV002164856]|WT1-related disorder [RCV004553654] |
Chr11:32434905 [GRCh38] Chr11:32456451 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.63C>T (p.His21=) |
single nucleotide variant |
Drash syndrome [RCV002150849] |
Chr11:32435298 [GRCh38] Chr11:32456844 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.279C>A (p.Gly93=) |
single nucleotide variant |
Drash syndrome [RCV002093699] |
Chr11:32435082 [GRCh38] Chr11:32456628 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+13G>C |
single nucleotide variant |
Drash syndrome [RCV002116813] |
Chr11:32434687 [GRCh38] Chr11:32456233 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.399G>T (p.Pro133=) |
single nucleotide variant |
Drash syndrome [RCV002169902] |
Chr11:32434962 [GRCh38] Chr11:32456508 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.66G>T (p.Thr22=) |
single nucleotide variant |
Drash syndrome [RCV002076838]|Hereditary cancer-predisposing syndrome [RCV002258362] |
Chr11:32435295 [GRCh38] Chr11:32456841 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.198G>A (p.Ala66=) |
single nucleotide variant |
Drash syndrome [RCV002080507] |
Chr11:32435163 [GRCh38] Chr11:32456709 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.150C>A (p.Ala50=) |
single nucleotide variant |
Drash syndrome [RCV002195193] |
Chr11:32435211 [GRCh38] Chr11:32456757 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.81T>C (p.Pro27=) |
single nucleotide variant |
Drash syndrome [RCV002202930]|Wilms tumor 1 [RCV004011237] |
Chr11:32435280 [GRCh38] Chr11:32456826 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.561T>C (p.Pro187=) |
single nucleotide variant |
Drash syndrome [RCV002143529] |
Chr11:32434800 [GRCh38] Chr11:32456346 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.489C>T (p.Ser163=) |
single nucleotide variant |
Drash syndrome [RCV002178275] |
Chr11:32434872 [GRCh38] Chr11:32456418 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.579G>A (p.Ala193=) |
single nucleotide variant |
Drash syndrome [RCV002204785]|Wilms tumor 1 [RCV004011243] |
Chr11:32434782 [GRCh38] Chr11:32456328 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.456C>T (p.Gly152=) |
single nucleotide variant |
Drash syndrome [RCV002099730] |
Chr11:32434905 [GRCh38] Chr11:32456451 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+13G>A |
single nucleotide variant |
Drash syndrome [RCV002216524] |
Chr11:32434687 [GRCh38] Chr11:32456233 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.255G>A (p.Leu85=) |
single nucleotide variant |
Drash syndrome [RCV002123375] |
Chr11:32435106 [GRCh38] Chr11:32456652 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.40G>C (p.Val14Leu) |
single nucleotide variant |
Drash syndrome [RCV003121074] |
Chr11:32435321 [GRCh38] Chr11:32456867 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.662-2076del |
deletion |
not provided [RCV001715722] |
Chr11:32430695 [GRCh38] Chr11:32452241 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.662-2031G>A |
single nucleotide variant |
Drash syndrome [RCV000988518] |
Chr11:32430650 [GRCh38] Chr11:32452196 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.70C>G (p.Arg24Gly) |
single nucleotide variant |
Drash syndrome [RCV003464438]|Wilms tumor 1 [RCV002292238] |
Chr11:32435291 [GRCh38] Chr11:32456837 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.514del (p.Gln172fs) |
deletion |
Wilms tumor 1 [RCV002266533] |
Chr11:32434847 [GRCh38] Chr11:32456393 [GRCh37] Chr11:11p13 |
pathogenic|likely pathogenic |
NM_024426.6(WT1):c.500T>A (p.Val167Asp) |
single nucleotide variant |
Nephrotic syndrome, type 4 [RCV001093599] |
Chr11:32434861 [GRCh38] Chr11:32456407 [GRCh37] Chr11:11p13 |
likely pathogenic |
NM_024426.6(WT1):c.500T>C (p.Val167Ala) |
single nucleotide variant |
Drash syndrome [RCV002569364]|not provided [RCV002469679] |
Chr11:32434861 [GRCh38] Chr11:32456407 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.662-1910G>T |
single nucleotide variant |
Nephrotic syndrome, type 4 [RCV004584584] |
Chr11:32430529 [GRCh38] Chr11:32452075 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.33C>A (p.Ser11=) |
single nucleotide variant |
Drash syndrome [RCV002838032] |
Chr11:32435328 [GRCh38] Chr11:32456874 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.391C>A (p.Pro131Thr) |
single nucleotide variant |
Drash syndrome [RCV002303952]|Drash syndrome [RCV003464439] |
Chr11:32434970 [GRCh38] Chr11:32456516 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.52G>T (p.Ala18Ser) |
single nucleotide variant |
Drash syndrome [RCV002304892] |
Chr11:32435309 [GRCh38] Chr11:32456855 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.59A>T (p.Gln20Leu) |
single nucleotide variant |
Drash syndrome [RCV002304912] |
Chr11:32435302 [GRCh38] Chr11:32456848 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.173T>G (p.Leu58Arg) |
single nucleotide variant |
Drash syndrome [RCV002294960] |
Chr11:32435188 [GRCh38] Chr11:32456734 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.261_262delinsTT (p.Val88Phe) |
indel |
Drash syndrome [RCV002295778] |
Chr11:32435099..32435100 [GRCh38] Chr11:32456645..32456646 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.377G>A (p.Gly126Asp) |
single nucleotide variant |
Drash syndrome [RCV002299595] |
Chr11:32434984 [GRCh38] Chr11:32456530 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.127G>C (p.Gly43Arg) |
single nucleotide variant |
Drash syndrome [RCV002302341] |
Chr11:32435234 [GRCh38] Chr11:32456780 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.111A>G (p.Gly37=) |
single nucleotide variant |
Drash syndrome [RCV002880317] |
Chr11:32435250 [GRCh38] Chr11:32456796 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.566C>A (p.Pro189Gln) |
single nucleotide variant |
Drash syndrome [RCV002726648] |
Chr11:32434795 [GRCh38] Chr11:32456341 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.16C>T (p.Leu6=) |
single nucleotide variant |
Drash syndrome [RCV002995054] |
Chr11:32435345 [GRCh38] Chr11:32456891 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.661G>A (p.Gly221Ser) |
single nucleotide variant |
Drash syndrome [RCV003074081] |
Chr11:32434700 [GRCh38] Chr11:32456246 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.645C>T (p.Pro215=) |
single nucleotide variant |
Drash syndrome [RCV002970907] |
Chr11:32434716 [GRCh38] Chr11:32456262 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.483C>T (p.Cys161=) |
single nucleotide variant |
Drash syndrome [RCV003076832] |
Chr11:32434878 [GRCh38] Chr11:32456424 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.424C>T (p.His142Tyr) |
single nucleotide variant |
Drash syndrome [RCV002636203] |
Chr11:32434937 [GRCh38] Chr11:32456483 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.376G>C (p.Gly126Arg) |
single nucleotide variant |
Drash syndrome [RCV002794861]|Wilms tumor 1 [RCV004007588] |
Chr11:32434985 [GRCh38] Chr11:32456531 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.299C>G (p.Pro100Arg) |
single nucleotide variant |
Drash syndrome [RCV002819912] |
Chr11:32435062 [GRCh38] Chr11:32456608 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.181C>T (p.Arg61Trp) |
single nucleotide variant |
Drash syndrome [RCV002819753] |
Chr11:32435180 [GRCh38] Chr11:32456726 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.643C>A (p.Pro215Thr) |
single nucleotide variant |
Drash syndrome [RCV002756640] |
Chr11:32434718 [GRCh38] Chr11:32456264 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.661+3A>G |
single nucleotide variant |
Drash syndrome [RCV003016106] |
Chr11:32434697 [GRCh38] Chr11:32456243 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.577_582dup (p.Ser194_Ser195insAlaSer) |
duplication |
Drash syndrome [RCV002907728] |
Chr11:32434778..32434779 [GRCh38] Chr11:32456324..32456325 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.367T>G (p.Ser123Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002754724]|Wilms tumor 1 [RCV004009556] |
Chr11:32434994 [GRCh38] Chr11:32456540 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.639C>A (p.Ser213Arg) |
single nucleotide variant |
Drash syndrome [RCV002615781] |
Chr11:32434722 [GRCh38] Chr11:32456268 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.247G>A (p.Ala83Thr) |
single nucleotide variant |
Drash syndrome [RCV002774936] |
Chr11:32435114 [GRCh38] Chr11:32456660 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.348G>C (p.Pro116=) |
single nucleotide variant |
Drash syndrome [RCV002993805] |
Chr11:32435013 [GRCh38] Chr11:32456559 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.107A>T (p.Gln36Leu) |
single nucleotide variant |
Drash syndrome [RCV002815225] |
Chr11:32435254 [GRCh38] Chr11:32456800 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.56C>G (p.Ser19Cys) |
single nucleotide variant |
Drash syndrome [RCV002819744] |
Chr11:32435305 [GRCh38] Chr11:32456851 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.35C>A (p.Thr12Lys) |
single nucleotide variant |
Drash syndrome [RCV002843467] |
Chr11:32435326 [GRCh38] Chr11:32456872 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.163G>A (p.Ala55Thr) |
single nucleotide variant |
Aniridia 1 [RCV002496211]|not provided [RCV004593037] |
Chr11:32435198 [GRCh38] Chr11:32456744 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.394G>T (p.Ala132Ser) |
single nucleotide variant |
Drash syndrome [RCV002695933] |
Chr11:32434967 [GRCh38] Chr11:32456513 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.263T>A (p.Val88Asp) |
single nucleotide variant |
Drash syndrome [RCV003001942] |
Chr11:32435098 [GRCh38] Chr11:32456644 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.271C>T (p.Leu91=) |
single nucleotide variant |
Drash syndrome [RCV002591169] |
Chr11:32435090 [GRCh38] Chr11:32456636 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.392C>T (p.Pro131Leu) |
single nucleotide variant |
Drash syndrome [RCV002592136]|Nephrotic syndrome, type 4 [RCV004577571] |
Chr11:32434969 [GRCh38] Chr11:32456515 [GRCh37] Chr11:11p13 |
likely pathogenic|uncertain significance |
NM_024426.6(WT1):c.34A>G (p.Thr12Ala) |
single nucleotide variant |
Drash syndrome [RCV002998832] |
Chr11:32435327 [GRCh38] Chr11:32456873 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.430_432del (p.Phe144del) |
deletion |
Drash syndrome [RCV002761250] |
Chr11:32434929..32434931 [GRCh38] Chr11:32456475..32456477 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.71G>C (p.Arg24Pro) |
single nucleotide variant |
Drash syndrome [RCV003021810] |
Chr11:32435290 [GRCh38] Chr11:32456836 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.32C>T (p.Ser11Phe) |
single nucleotide variant |
Drash syndrome [RCV002571858]|Drash syndrome [RCV003465782] |
Chr11:32435329 [GRCh38] Chr11:32456875 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.288_289insGGA (p.Gly96_Cys97insGly) |
insertion |
Drash syndrome [RCV002910204] |
Chr11:32435072..32435073 [GRCh38] Chr11:32456618..32456619 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.534A>G (p.Gly178=) |
single nucleotide variant |
Drash syndrome [RCV002694870] |
Chr11:32434827 [GRCh38] Chr11:32456373 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.128G>T (p.Gly43Val) |
single nucleotide variant |
Drash syndrome [RCV002621182] |
Chr11:32435233 [GRCh38] Chr11:32456779 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.661G>T (p.Gly221Cys) |
single nucleotide variant |
Drash syndrome [RCV003053139]|not provided [RCV003320912] |
Chr11:32434700 [GRCh38] Chr11:32456246 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.406C>T (p.Pro136Ser) |
single nucleotide variant |
Drash syndrome [RCV002795188]|Inborn genetic diseases [RCV002785711]|Wilms tumor 1 [RCV004007595] |
Chr11:32434955 [GRCh38] Chr11:32456501 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.112G>A (p.Val38Ile) |
single nucleotide variant |
Drash syndrome [RCV002620071] |
Chr11:32435249 [GRCh38] Chr11:32456795 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.303G>A (p.Val101=) |
single nucleotide variant |
Drash syndrome [RCV002591834] |
Chr11:32435058 [GRCh38] Chr11:32456604 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.313G>A (p.Ala105Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002868922] |
Chr11:32435048 [GRCh38] Chr11:32456594 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.24C>T (p.Asp8=) |
single nucleotide variant |
Drash syndrome [RCV002889200]|WT1-related disorder [RCV004548375]|Wilms tumor 1 [RCV004007647] |
Chr11:32435337 [GRCh38] Chr11:32456883 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+9del |
deletion |
Drash syndrome [RCV003017858] |
Chr11:32434691 [GRCh38] Chr11:32456237 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.162C>T (p.Ser54=) |
single nucleotide variant |
Drash syndrome [RCV003054625] |
Chr11:32435199 [GRCh38] Chr11:32456745 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.48G>A (p.Glu16=) |
single nucleotide variant |
Drash syndrome [RCV002867062] |
Chr11:32435313 [GRCh38] Chr11:32456859 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.322G>A (p.Ala108Thr) |
single nucleotide variant |
Drash syndrome [RCV002953044] |
Chr11:32435039 [GRCh38] Chr11:32456585 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.182G>C (p.Arg61Pro) |
single nucleotide variant |
Drash syndrome [RCV002622515] |
Chr11:32435179 [GRCh38] Chr11:32456725 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.612G>A (p.Ala204=) |
single nucleotide variant |
Drash syndrome [RCV002847787] |
Chr11:32434749 [GRCh38] Chr11:32456295 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.616T>C (p.Tyr206His) |
single nucleotide variant |
Drash syndrome [RCV002851504] |
Chr11:32434745 [GRCh38] Chr11:32456291 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.554T>G (p.Phe185Cys) |
single nucleotide variant |
Drash syndrome [RCV002626964] |
Chr11:32434807 [GRCh38] Chr11:32456353 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.161G>C (p.Ser54Thr) |
single nucleotide variant |
Drash syndrome [RCV003008350] |
Chr11:32435200 [GRCh38] Chr11:32456746 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.306C>A (p.Ser102Arg) |
single nucleotide variant |
Drash syndrome [RCV002625079] |
Chr11:32435055 [GRCh38] Chr11:32456601 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.116G>C (p.Arg39Pro) |
single nucleotide variant |
Drash syndrome [RCV002664141]|Drash syndrome [RCV003465994] |
Chr11:32435245 [GRCh38] Chr11:32456791 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.555C>G (p.Phe185Leu) |
single nucleotide variant |
Drash syndrome [RCV002625680] |
Chr11:32434806 [GRCh38] Chr11:32456352 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.414G>A (p.Pro138=) |
single nucleotide variant |
Drash syndrome [RCV002643620] |
Chr11:32434947 [GRCh38] Chr11:32456493 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.428C>G (p.Ser143Cys) |
single nucleotide variant |
Drash syndrome [RCV003006343] |
Chr11:32434933 [GRCh38] Chr11:32456479 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.261C>A (p.Ala87=) |
single nucleotide variant |
Drash syndrome [RCV002595334]|WT1-related disorder [RCV004550417] |
Chr11:32435100 [GRCh38] Chr11:32456646 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.507_511delinsCACTGT (p.Ser170fs) |
indel |
Drash syndrome [RCV003022908] |
Chr11:32434850..32434854 [GRCh38] Chr11:32456396..32456400 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.401C>T (p.Pro134Leu) |
single nucleotide variant |
Drash syndrome [RCV002710447] |
Chr11:32434960 [GRCh38] Chr11:32456506 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.230A>T (p.Asp77Val) |
single nucleotide variant |
Drash syndrome [RCV003040216] |
Chr11:32435131 [GRCh38] Chr11:32456677 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.413C>T (p.Pro138Leu) |
single nucleotide variant |
Drash syndrome [RCV003063611]|Drash syndrome [RCV003465944] |
Chr11:32434948 [GRCh38] Chr11:32456494 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.514C>T (p.Gln172Ter) |
single nucleotide variant |
Drash syndrome [RCV003048353] |
Chr11:32434847 [GRCh38] Chr11:32456393 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.238G>C (p.Asp80His) |
single nucleotide variant |
Drash syndrome [RCV003026413] |
Chr11:32435123 [GRCh38] Chr11:32456669 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.249G>T (p.Ala83=) |
single nucleotide variant |
Drash syndrome [RCV002770401] |
Chr11:32435112 [GRCh38] Chr11:32456658 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.416C>A (p.Pro139Gln) |
single nucleotide variant |
Drash syndrome [RCV003087247] |
Chr11:32434945 [GRCh38] Chr11:32456491 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.609C>A (p.Asn203Lys) |
single nucleotide variant |
Drash syndrome [RCV002746126] |
Chr11:32434752 [GRCh38] Chr11:32456298 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.578C>A (p.Ala193Glu) |
single nucleotide variant |
Drash syndrome [RCV003029274] |
Chr11:32434783 [GRCh38] Chr11:32456329 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.311C>T (p.Ala104Val) |
single nucleotide variant |
Drash syndrome [RCV003046133] |
Chr11:32435050 [GRCh38] Chr11:32456596 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly) |
indel |
Drash syndrome [RCV003090700]|not provided [RCV003443120] |
Chr11:32435344..32435345 [GRCh38] Chr11:32456890..32456891 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.94C>A (p.Gln32Lys) |
single nucleotide variant |
Drash syndrome [RCV002580672] |
Chr11:32435267 [GRCh38] Chr11:32456813 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.197C>T (p.Ala66Val) |
single nucleotide variant |
Drash syndrome [RCV003090290]|Wilms tumor 1 [RCV004009409] |
Chr11:32435164 [GRCh38] Chr11:32456710 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.261C>G (p.Ala87=) |
single nucleotide variant |
Drash syndrome [RCV003060241]|Wilms tumor 1 [RCV004009316] |
Chr11:32435100 [GRCh38] Chr11:32456646 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.656A>G (p.Asn219Ser) |
single nucleotide variant |
Drash syndrome [RCV002856615] |
Chr11:32434705 [GRCh38] Chr11:32456251 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.164C>T (p.Ala55Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002747564] |
Chr11:32435197 [GRCh38] Chr11:32456743 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.660G>A (p.Gln220=) |
single nucleotide variant |
Drash syndrome [RCV003029250] |
Chr11:32434701 [GRCh38] Chr11:32456247 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.453G>A (p.Trp151Ter) |
single nucleotide variant |
Drash syndrome [RCV002899411] |
Chr11:32434908 [GRCh38] Chr11:32456454 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.153C>A (p.Ala51=) |
single nucleotide variant |
Drash syndrome [RCV002671442] |
Chr11:32435208 [GRCh38] Chr11:32456754 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.544T>C (p.Tyr182His) |
single nucleotide variant |
Drash syndrome [RCV003065105] |
Chr11:32434817 [GRCh38] Chr11:32456363 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.645C>A (p.Pro215=) |
single nucleotide variant |
Drash syndrome [RCV002603376] |
Chr11:32434716 [GRCh38] Chr11:32456262 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.163G>T (p.Ala55Ser) |
single nucleotide variant |
Drash syndrome [RCV002653394]|Wilms tumor 1 [RCV004007522] |
Chr11:32435198 [GRCh38] Chr11:32456744 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.408C>A (p.Pro136=) |
single nucleotide variant |
Drash syndrome [RCV002633912] |
Chr11:32434953 [GRCh38] Chr11:32456499 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.541C>G (p.Arg181Gly) |
single nucleotide variant |
Drash syndrome [RCV003072564]|Drash syndrome [RCV004572746] |
Chr11:32434820 [GRCh38] Chr11:32456366 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.295C>G (p.Leu99Val) |
single nucleotide variant |
Drash syndrome [RCV002585289] |
Chr11:32435066 [GRCh38] Chr11:32456612 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.441G>A (p.Gln147=) |
single nucleotide variant |
Drash syndrome [RCV003073286] |
Chr11:32434920 [GRCh38] Chr11:32456466 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.166G>C (p.Glu56Gln) |
single nucleotide variant |
Drash syndrome [RCV003073347] |
Chr11:32435195 [GRCh38] Chr11:32456741 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.36G>A (p.Thr12=) |
single nucleotide variant |
Drash syndrome [RCV003066842] |
Chr11:32435325 [GRCh38] Chr11:32456871 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+12G>A |
single nucleotide variant |
Drash syndrome [RCV002607980] |
Chr11:32434688 [GRCh38] Chr11:32456234 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.420G>T (p.Pro140=) |
single nucleotide variant |
Drash syndrome [RCV002612771] |
Chr11:32434941 [GRCh38] Chr11:32456487 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.662-1831CT[8] |
microsatellite |
not provided [RCV001588295] |
Chr11:32430433..32430434 [GRCh38] Chr11:32451979..32451980 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.662-1873_662-1868dup |
duplication |
not provided [RCV001576502] |
Chr11:32430486..32430487 [GRCh38] Chr11:32452032..32452033 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.662-1785T>G |
single nucleotide variant |
not provided [RCV001653216] |
Chr11:32430404 [GRCh38] Chr11:32451950 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.461C>T (p.Ala154Val) |
single nucleotide variant |
Ovarian cancer [RCV003154796] |
Chr11:32434900 [GRCh38] Chr11:32456446 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.281G>A (p.Gly94Asp) |
single nucleotide variant |
Ovarian cancer [RCV003154672] |
Chr11:32435080 [GRCh38] Chr11:32456626 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.551C>A (p.Pro184His) |
single nucleotide variant |
Ovarian cancer [RCV003154745] |
Chr11:32434810 [GRCh38] Chr11:32456356 [GRCh37] Chr11:11p13 |
likely pathogenic |
NM_024426.6(WT1):c.662-1836_662-1835dup |
duplication |
not provided [RCV001757548] |
Chr11:32430453..32430454 [GRCh38] Chr11:32451999..32452000 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.662-1755A>C |
single nucleotide variant |
not provided [RCV001677919] |
Chr11:32430374 [GRCh38] Chr11:32451920 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.662-1829_662-1828insCC |
insertion |
not provided [RCV001683938] |
Chr11:32430447..32430448 [GRCh38] Chr11:32451993..32451994 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.662-1756C>G |
single nucleotide variant |
not provided [RCV001693515] |
Chr11:32430375 [GRCh38] Chr11:32451921 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.114C>G (p.Val38=) |
single nucleotide variant |
Drash syndrome [RCV003779830]|not provided [RCV003229364] |
Chr11:32435247 [GRCh38] Chr11:32456793 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.305G>C (p.Ser102Thr) |
single nucleotide variant |
not provided [RCV003323180] |
Chr11:32435056 [GRCh38] Chr11:32456602 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.537C>G (p.Ala179=) |
single nucleotide variant |
not provided [RCV003326830] |
Chr11:32434824 [GRCh38] Chr11:32456370 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.662-1917del |
deletion |
Drash syndrome [RCV003464889] |
Chr11:32430536 [GRCh38] Chr11:32452082 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.624C>T (p.Pro208=) |
single nucleotide variant |
Drash syndrome [RCV003792486] |
Chr11:32434737 [GRCh38] Chr11:32456283 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.28G>A (p.Ala10Thr) |
single nucleotide variant |
Drash syndrome [RCV003791060]|Wilms tumor 1 [RCV004006030] |
Chr11:32435333 [GRCh38] Chr11:32456879 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.349G>A (p.Gly117Ser) |
single nucleotide variant |
Drash syndrome [RCV003464887] |
Chr11:32435012 [GRCh38] Chr11:32456558 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.410del (p.Pro137fs) |
deletion |
Wilms tumor 1 [RCV003447724] |
Chr11:32434951 [GRCh38] Chr11:32456497 [GRCh37] Chr11:11p13 |
likely pathogenic |
NM_024426.6(WT1):c.511G>C (p.Gly171Arg) |
single nucleotide variant |
Drash syndrome [RCV003791674] |
Chr11:32434850 [GRCh38] Chr11:32456396 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.381del (p.Ala128fs) |
deletion |
WT1-related disorder [RCV004550668] |
Chr11:32434980 [GRCh38] Chr11:32456526 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.530C>A (p.Ala177Asp) |
single nucleotide variant |
Drash syndrome [RCV003464888] |
Chr11:32434831 [GRCh38] Chr11:32456377 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.619del (p.Leu207fs) |
deletion |
WT1-related disorder [RCV004548633] |
Chr11:32434742 [GRCh38] Chr11:32456288 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.145G>C (p.Gly49Arg) |
single nucleotide variant |
WT1-related disorder [RCV004550671] |
Chr11:32435216 [GRCh38] Chr11:32456762 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.384G>A (p.Ala128=) |
single nucleotide variant |
Drash syndrome [RCV003778478]|not provided [RCV003442272] |
Chr11:32434977 [GRCh38] Chr11:32456523 [GRCh37] Chr11:11p13 |
likely benign|uncertain significance |
NM_024426.6(WT1):c.40dup (p.Val14fs) |
duplication |
Drash syndrome [RCV003466558] |
Chr11:32435320..32435321 [GRCh38] Chr11:32456866..32456867 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.270C>G (p.Ser90=) |
single nucleotide variant |
Drash syndrome [RCV003783287] |
Chr11:32435091 [GRCh38] Chr11:32456637 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.216G>A (p.Gln72=) |
single nucleotide variant |
Drash syndrome [RCV003788272] |
Chr11:32435145 [GRCh38] Chr11:32456691 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+17G>T |
single nucleotide variant |
Drash syndrome [RCV003807239] |
Chr11:32434683 [GRCh38] Chr11:32456229 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.519C>A (p.Phe173Leu) |
single nucleotide variant |
Drash syndrome [RCV003791013] |
Chr11:32434842 [GRCh38] Chr11:32456388 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.17T>C (p.Leu6Pro) |
single nucleotide variant |
Drash syndrome [RCV003789992] |
Chr11:32435344 [GRCh38] Chr11:32456890 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.246C>A (p.Asn82Lys) |
single nucleotide variant |
Drash syndrome [RCV003793946] |
Chr11:32435115 [GRCh38] Chr11:32456661 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.389C>T (p.Pro130Leu) |
single nucleotide variant |
Drash syndrome [RCV003804274] |
Chr11:32434972 [GRCh38] Chr11:32456518 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.119A>C (p.Asp40Ala) |
single nucleotide variant |
Drash syndrome [RCV003807819] |
Chr11:32435242 [GRCh38] Chr11:32456788 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.49C>T (p.Pro17Ser) |
single nucleotide variant |
Drash syndrome [RCV003806731] |
Chr11:32435312 [GRCh38] Chr11:32456858 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.182G>A (p.Arg61Gln) |
single nucleotide variant |
Drash syndrome [RCV003783917]|Drash syndrome [RCV004573307] |
Chr11:32435179 [GRCh38] Chr11:32456725 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.325C>T (p.Pro109Ser) |
single nucleotide variant |
Drash syndrome [RCV003806748] |
Chr11:32435036 [GRCh38] Chr11:32456582 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.661+12G>C |
single nucleotide variant |
Drash syndrome [RCV003795677] |
Chr11:32434688 [GRCh38] Chr11:32456234 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+11C>A |
single nucleotide variant |
Drash syndrome [RCV003807080] |
Chr11:32434689 [GRCh38] Chr11:32456235 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.312G>T (p.Ala104=) |
single nucleotide variant |
Drash syndrome [RCV003786240] |
Chr11:32435049 [GRCh38] Chr11:32456595 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.338T>A (p.Phe113Tyr) |
single nucleotide variant |
Drash syndrome [RCV003807886] |
Chr11:32435023 [GRCh38] Chr11:32456569 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.423T>G (p.Pro141=) |
single nucleotide variant |
Drash syndrome [RCV003797335] |
Chr11:32434938 [GRCh38] Chr11:32456484 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu) |
indel |
Drash syndrome [RCV003793657] |
Chr11:32435113..32435114 [GRCh38] Chr11:32456659..32456660 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.640C>T (p.Gln214Ter) |
single nucleotide variant |
Drash syndrome [RCV003790865] |
Chr11:32434721 [GRCh38] Chr11:32456267 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.529G>T (p.Ala177Ser) |
single nucleotide variant |
Drash syndrome [RCV003792994] |
Chr11:32434832 [GRCh38] Chr11:32456378 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.379C>T (p.Pro127Ser) |
single nucleotide variant |
Drash syndrome [RCV003788942] |
Chr11:32434982 [GRCh38] Chr11:32456528 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.497C>G (p.Thr166Ser) |
single nucleotide variant |
Drash syndrome [RCV003789736] |
Chr11:32434864 [GRCh38] Chr11:32456410 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.351C>A (p.Gly117=) |
single nucleotide variant |
Drash syndrome [RCV003783478] |
Chr11:32435010 [GRCh38] Chr11:32456556 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.332T>C (p.Leu111Pro) |
single nucleotide variant |
Drash syndrome [RCV003806612]|not provided [RCV004775505] |
Chr11:32435029 [GRCh38] Chr11:32456575 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.363C>A (p.Tyr121Ter) |
single nucleotide variant |
Drash syndrome [RCV003783572] |
Chr11:32434998 [GRCh38] Chr11:32456544 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.143T>G (p.Leu48Ter) |
single nucleotide variant |
Drash syndrome [RCV003795181] |
Chr11:32435218 [GRCh38] Chr11:32456764 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.105G>T (p.Gln35His) |
single nucleotide variant |
Drash syndrome [RCV003786964] |
Chr11:32435256 [GRCh38] Chr11:32456802 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.257C>T (p.Pro86Leu) |
single nucleotide variant |
Drash syndrome [RCV003785781] |
Chr11:32435104 [GRCh38] Chr11:32456650 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.513C>T (p.Gly171=) |
single nucleotide variant |
Drash syndrome [RCV003785843] |
Chr11:32434848 [GRCh38] Chr11:32456394 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.553T>G (p.Phe185Val) |
single nucleotide variant |
Drash syndrome [RCV003794761] |
Chr11:32434808 [GRCh38] Chr11:32456354 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.127G>A (p.Gly43Ser) |
single nucleotide variant |
Drash syndrome [RCV003789990] |
Chr11:32435234 [GRCh38] Chr11:32456780 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.23A>T (p.Asp8Val) |
single nucleotide variant |
Drash syndrome [RCV003807215] |
Chr11:32435338 [GRCh38] Chr11:32456884 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.266C>T (p.Pro89Leu) |
single nucleotide variant |
Drash syndrome [RCV003787009]|Wilms tumor 1 [RCV004005975] |
Chr11:32435095 [GRCh38] Chr11:32456641 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.330G>A (p.Val110=) |
single nucleotide variant |
Drash syndrome [RCV003784316] |
Chr11:32435031 [GRCh38] Chr11:32456577 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.325C>G (p.Pro109Ala) |
single nucleotide variant |
Drash syndrome [RCV003785236] |
Chr11:32435036 [GRCh38] Chr11:32456582 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.533G>A (p.Gly178Glu) |
single nucleotide variant |
Drash syndrome [RCV003806226] |
Chr11:32434828 [GRCh38] Chr11:32456374 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.654C>T (p.Arg218=) |
single nucleotide variant |
Drash syndrome [RCV003794534] |
Chr11:32434707 [GRCh38] Chr11:32456253 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.532G>A (p.Gly178Arg) |
single nucleotide variant |
Drash syndrome [RCV003795142] |
Chr11:32434829 [GRCh38] Chr11:32456375 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.246C>G (p.Asn82Lys) |
single nucleotide variant |
Drash syndrome [RCV003806680] |
Chr11:32435115 [GRCh38] Chr11:32456661 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.506T>C (p.Phe169Ser) |
single nucleotide variant |
Drash syndrome [RCV003804964] |
Chr11:32434855 [GRCh38] Chr11:32456401 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.546C>T (p.Tyr182=) |
single nucleotide variant |
Drash syndrome [RCV003806355] |
Chr11:32434815 [GRCh38] Chr11:32456361 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.489C>G (p.Ser163Arg) |
single nucleotide variant |
Drash syndrome [RCV003794288] |
Chr11:32434872 [GRCh38] Chr11:32456418 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.481T>G (p.Cys161Gly) |
single nucleotide variant |
Drash syndrome [RCV003787455] |
Chr11:32434880 [GRCh38] Chr11:32456426 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.648_654dup (p.Asn219fs) |
duplication |
Drash syndrome [RCV003807126] |
Chr11:32434706..32434707 [GRCh38] Chr11:32456252..32456253 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.265C>A (p.Pro89Thr) |
single nucleotide variant |
Drash syndrome [RCV003796272] |
Chr11:32435096 [GRCh38] Chr11:32456642 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.372G>T (p.Leu124Phe) |
single nucleotide variant |
Drash syndrome [RCV003786738] |
Chr11:32434989 [GRCh38] Chr11:32456535 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.484C>T (p.Leu162=) |
single nucleotide variant |
Drash syndrome [RCV003783286] |
Chr11:32434877 [GRCh38] Chr11:32456423 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.661+14G>A |
single nucleotide variant |
Drash syndrome [RCV003781698] |
Chr11:32434686 [GRCh38] Chr11:32456232 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.408C>T (p.Pro136=) |
single nucleotide variant |
Drash syndrome [RCV003788180]|Wilms tumor 1 [RCV004005939] |
Chr11:32434953 [GRCh38] Chr11:32456499 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.284G>A (p.Gly95Asp) |
single nucleotide variant |
Drash syndrome [RCV003786889] |
Chr11:32435077 [GRCh38] Chr11:32456623 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.539G>A (p.Cys180Tyr) |
single nucleotide variant |
Drash syndrome [RCV003792224] |
Chr11:32434822 [GRCh38] Chr11:32456368 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.402G>T (p.Pro134=) |
single nucleotide variant |
Drash syndrome [RCV003783451] |
Chr11:32434959 [GRCh38] Chr11:32456505 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.366G>T (p.Gly122=) |
single nucleotide variant |
Drash syndrome [RCV003789296] |
Chr11:32434995 [GRCh38] Chr11:32456541 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.395C>G (p.Ala132Gly) |
single nucleotide variant |
Drash syndrome [RCV003782113] |
Chr11:32434966 [GRCh38] Chr11:32456512 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.126C>A (p.Gly42=) |
single nucleotide variant |
Drash syndrome [RCV003789991] |
Chr11:32435235 [GRCh38] Chr11:32456781 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.398C>A (p.Pro133Gln) |
single nucleotide variant |
Drash syndrome [RCV003791541] |
Chr11:32434963 [GRCh38] Chr11:32456509 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.84G>C (p.Gly28=) |
single nucleotide variant |
Drash syndrome [RCV003781943] |
Chr11:32435277 [GRCh38] Chr11:32456823 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.368C>A (p.Ser123Ter) |
single nucleotide variant |
Drash syndrome [RCV003783571] |
Chr11:32434993 [GRCh38] Chr11:32456539 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.567G>A (p.Pro189=) |
single nucleotide variant |
Drash syndrome [RCV003791616] |
Chr11:32434794 [GRCh38] Chr11:32456340 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.380C>T (p.Pro127Leu) |
single nucleotide variant |
Drash syndrome [RCV003782678] |
Chr11:32434981 [GRCh38] Chr11:32456527 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.181_182delinsTA (p.Arg61Ter) |
indel |
Drash syndrome [RCV003792533] |
Chr11:32435179..32435180 [GRCh38] Chr11:32456725..32456726 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.583T>G (p.Ser195Ala) |
single nucleotide variant |
Drash syndrome [RCV003788030] |
Chr11:32434778 [GRCh38] Chr11:32456324 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.36G>C (p.Thr12=) |
single nucleotide variant |
Drash syndrome [RCV003793964] |
Chr11:32435325 [GRCh38] Chr11:32456871 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.476A>G (p.Glu159Gly) |
single nucleotide variant |
Drash syndrome [RCV003780278] |
Chr11:32434885 [GRCh38] Chr11:32456431 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.73T>C (p.Ser25Pro) |
single nucleotide variant |
Drash syndrome [RCV003788955] |
Chr11:32435288 [GRCh38] Chr11:32456834 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.570C>T (p.Pro190=) |
single nucleotide variant |
Drash syndrome [RCV003800936] |
Chr11:32434791 [GRCh38] Chr11:32456337 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.110G>A (p.Gly37Glu) |
single nucleotide variant |
Drash syndrome [RCV003800095] |
Chr11:32435251 [GRCh38] Chr11:32456797 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.244A>G (p.Asn82Asp) |
single nucleotide variant |
Drash syndrome [RCV003800415] |
Chr11:32435117 [GRCh38] Chr11:32456663 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.91C>G (p.Gln31Glu) |
single nucleotide variant |
Drash syndrome [RCV003809658]|Wilms tumor 1 [RCV004006073] |
Chr11:32435270 [GRCh38] Chr11:32456816 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.196del (p.Ala66fs) |
deletion |
Drash syndrome [RCV003812278] |
Chr11:32435165 [GRCh38] Chr11:32456711 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.422C>T (p.Pro141Leu) |
single nucleotide variant |
Drash syndrome [RCV003813063] |
Chr11:32434939 [GRCh38] Chr11:32456485 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.598A>G (p.Met200Val) |
single nucleotide variant |
Drash syndrome [RCV003809862] |
Chr11:32434763 [GRCh38] Chr11:32456309 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.254T>C (p.Leu85Pro) |
single nucleotide variant |
Drash syndrome [RCV003812453]|Wilms tumor 1 [RCV004006076] |
Chr11:32435107 [GRCh38] Chr11:32456653 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.347C>G (p.Pro116Arg) |
single nucleotide variant |
Drash syndrome [RCV003798080] |
Chr11:32435014 [GRCh38] Chr11:32456560 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.356C>T (p.Ser119Leu) |
single nucleotide variant |
Drash syndrome [RCV003815353] |
Chr11:32435005 [GRCh38] Chr11:32456551 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.237G>A (p.Arg79=) |
single nucleotide variant |
Drash syndrome [RCV003798447]|Wilms tumor 1 [RCV004006026] |
Chr11:32435124 [GRCh38] Chr11:32456670 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.405_413dup (p.Pro141_His142insProProPro) |
duplication |
Drash syndrome [RCV003815540] |
Chr11:32434947..32434948 [GRCh38] Chr11:32456493..32456494 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.557G>A (p.Gly186Asp) |
single nucleotide variant |
Drash syndrome [RCV003812599] |
Chr11:32434804 [GRCh38] Chr11:32456350 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.225del (p.Ser76fs) |
deletion |
Drash syndrome [RCV003808611] |
Chr11:32435136 [GRCh38] Chr11:32456682 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.578C>T (p.Ala193Val) |
single nucleotide variant |
Drash syndrome [RCV003797885]|Wilms tumor 1 [RCV004006012] |
Chr11:32434783 [GRCh38] Chr11:32456329 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.338T>C (p.Phe113Ser) |
single nucleotide variant |
Drash syndrome [RCV003809213] |
Chr11:32435023 [GRCh38] Chr11:32456569 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.53C>A (p.Ala18Glu) |
single nucleotide variant |
Drash syndrome [RCV003798764] |
Chr11:32435308 [GRCh38] Chr11:32456854 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.370T>C (p.Leu124=) |
single nucleotide variant |
Drash syndrome [RCV003812847] |
Chr11:32434991 [GRCh38] Chr11:32456537 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.447G>A (p.Pro149=) |
single nucleotide variant |
Drash syndrome [RCV003813035] |
Chr11:32434914 [GRCh38] Chr11:32456460 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.117G>T (p.Arg39=) |
single nucleotide variant |
Drash syndrome [RCV003809695] |
Chr11:32435244 [GRCh38] Chr11:32456790 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.275dup (p.Gly93fs) |
duplication |
Drash syndrome [RCV003808651] |
Chr11:32435085..32435086 [GRCh38] Chr11:32456631..32456632 [GRCh37] Chr11:11p13 |
pathogenic |
NM_024426.6(WT1):c.449G>T (p.Ser150Ile) |
single nucleotide variant |
Drash syndrome [RCV003803062] |
Chr11:32434912 [GRCh38] Chr11:32456458 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.70C>A (p.Arg24Ser) |
single nucleotide variant |
Drash syndrome [RCV003802746] |
Chr11:32435291 [GRCh38] Chr11:32456837 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.357G>T (p.Ser119=) |
single nucleotide variant |
Drash syndrome [RCV003802982] |
Chr11:32435004 [GRCh38] Chr11:32456550 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.98C>A (p.Pro33Gln) |
single nucleotide variant |
Drash syndrome [RCV003803889] |
Chr11:32435263 [GRCh38] Chr11:32456809 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.383C>A (p.Ala128Glu) |
single nucleotide variant |
Drash syndrome [RCV003803782] |
Chr11:32434978 [GRCh38] Chr11:32456524 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.145G>A (p.Gly49Ser) |
single nucleotide variant |
Wilms tumor 1 [RCV004008159] |
Chr11:32435216 [GRCh38] Chr11:32456762 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.327G>A (p.Pro109=) |
single nucleotide variant |
Wilms tumor 1 [RCV004010012] |
Chr11:32435034 [GRCh38] Chr11:32456580 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.390A>C (p.Pro130=) |
single nucleotide variant |
WT1-related disorder [RCV004552646] |
Chr11:32434971 [GRCh38] Chr11:32456517 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.287_288insGGA (p.Gly96_Cys97insAsp) |
insertion |
Wilms tumor 1 [RCV004007989] |
Chr11:32435073..32435074 [GRCh38] Chr11:32456619..32456620 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.232G>T (p.Val78Leu) |
single nucleotide variant |
not provided [RCV003887055] |
Chr11:32435129 [GRCh38] Chr11:32456675 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.412C>A (p.Pro138Thr) |
single nucleotide variant |
Wilms tumor 1 [RCV004012257] |
Chr11:32434949 [GRCh38] Chr11:32456495 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.181C>G (p.Arg61Gly) |
single nucleotide variant |
Drash syndrome [RCV004573457]|Wilms tumor 1 [RCV004012454] |
Chr11:32435180 [GRCh38] Chr11:32456726 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.25C>G (p.Pro9Ala) |
single nucleotide variant |
Wilms tumor 1 [RCV004012329] |
Chr11:32435336 [GRCh38] Chr11:32456882 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.288C>G (p.Gly96=) |
single nucleotide variant |
Wilms tumor 1 [RCV004012253] |
Chr11:32435073 [GRCh38] Chr11:32456619 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.440A>C (p.Gln147Pro) |
single nucleotide variant |
Wilms tumor 1 [RCV004012801] |
Chr11:32434921 [GRCh38] Chr11:32456467 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.266C>G (p.Pro89Arg) |
single nucleotide variant |
Wilms tumor 1 [RCV004010250] |
Chr11:32435095 [GRCh38] Chr11:32456641 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.451T>G (p.Trp151Gly) |
single nucleotide variant |
Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991635] |
Chr11:32434910 [GRCh38] Chr11:32456456 [GRCh37] Chr11:11p13 |
likely pathogenic |
NM_024426.6(WT1):c.460G>A (p.Ala154Thr) |
single nucleotide variant |
Wilms tumor 1 [RCV004016105] |
Chr11:32434901 [GRCh38] Chr11:32456447 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.228C>G (p.Ser76=) |
single nucleotide variant |
Wilms tumor 1 [RCV004013251] |
Chr11:32435133 [GRCh38] Chr11:32456679 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.401C>A (p.Pro134Gln) |
single nucleotide variant |
Wilms tumor 1 [RCV004015630] |
Chr11:32434960 [GRCh38] Chr11:32456506 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.79C>T (p.Pro27Ser) |
single nucleotide variant |
Wilms tumor 1 [RCV004013576] |
Chr11:32435282 [GRCh38] Chr11:32456828 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.592G>T (p.Ala198Ser) |
single nucleotide variant |
Wilms tumor 1 [RCV004015020] |
Chr11:32434769 [GRCh38] Chr11:32456315 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.66G>C (p.Thr22=) |
single nucleotide variant |
Wilms tumor 1 [RCV004015916] |
Chr11:32435295 [GRCh38] Chr11:32456841 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.69_70del (p.Arg24fs) |
deletion |
Wilms tumor 1 [RCV004017079] |
Chr11:32435291..32435292 [GRCh38] Chr11:32456837..32456838 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.436A>C (p.Lys146Gln) |
single nucleotide variant |
Wilms tumor 1 [RCV004012895] |
Chr11:32434925 [GRCh38] Chr11:32456471 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.76_80del (p.Gly26fs) |
deletion |
Wilms tumor 1 [RCV004017078] |
Chr11:32435281..32435285 [GRCh38] Chr11:32456827..32456831 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.49C>A (p.Pro17Thr) |
single nucleotide variant |
Wilms tumor 1 [RCV004014730] |
Chr11:32435312 [GRCh38] Chr11:32456858 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.7T>G (p.Phe3Val) |
single nucleotide variant |
Wilms tumor 1 [RCV004016657] |
Chr11:32435354 [GRCh38] Chr11:32456900 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.65C>A (p.Thr22Lys) |
single nucleotide variant |
Wilms tumor 1 [RCV004015063] |
Chr11:32435296 [GRCh38] Chr11:32456842 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.152C>A (p.Ala51Asp) |
single nucleotide variant |
Wilms tumor 1 [RCV004013523] |
Chr11:32435209 [GRCh38] Chr11:32456755 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.434T>G (p.Ile145Ser) |
single nucleotide variant |
Nephrotic syndrome, type 4 [RCV004566393] |
Chr11:32434927 [GRCh38] Chr11:32456473 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.318G>A (p.Gln106=) |
single nucleotide variant |
Wilms tumor 1 [RCV004013344] |
Chr11:32435043 [GRCh38] Chr11:32456589 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.651T>C (p.Ile217=) |
single nucleotide variant |
Wilms tumor 1 [RCV004015184] |
Chr11:32434710 [GRCh38] Chr11:32456256 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.328G>T (p.Val110Leu) |
single nucleotide variant |
Wilms tumor 1 [RCV004016268] |
Chr11:32435033 [GRCh38] Chr11:32456579 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.239A>G (p.Asp80Gly) |
single nucleotide variant |
Wilms tumor 1 [RCV004014793] |
Chr11:32435122 [GRCh38] Chr11:32456668 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.220A>G (p.Met74Val) |
single nucleotide variant |
Wilms tumor 1 [RCV004013319] |
Chr11:32435141 [GRCh38] Chr11:32456687 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.191G>T (p.Arg64Leu) |
single nucleotide variant |
Wilms tumor 1 [RCV004013667] |
Chr11:32435170 [GRCh38] Chr11:32456716 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.522T>G (p.Thr174=) |
single nucleotide variant |
Wilms tumor 1 [RCV004015508] |
Chr11:32434839 [GRCh38] Chr11:32456385 [GRCh37] Chr11:11p13 |
likely benign |
NM_024426.6(WT1):c.275G>A (p.Gly92Asp) |
single nucleotide variant |
Wilms tumor 1 [RCV004016107] |
Chr11:32435086 [GRCh38] Chr11:32456632 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.374G>A (p.Gly125Asp) |
single nucleotide variant |
Drash syndrome [RCV004573873] |
Chr11:32434987 [GRCh38] Chr11:32456533 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.661+719G>T |
single nucleotide variant |
not specified [RCV004595435] |
Chr11:32433981 [GRCh38] Chr11:32455527 [GRCh37] Chr11:11p13 |
benign |
NM_024426.6(WT1):c.429C>A (p.Ser143=) |
single nucleotide variant |
not provided [RCV004723889] |
Chr11:32434932 [GRCh38] Chr11:32456478 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.438A>T (p.Lys146Asn) |
single nucleotide variant |
not provided [RCV004727749] |
Chr11:32434923 [GRCh38] Chr11:32456469 [GRCh37] Chr11:11p13 |
uncertain significance |
NM_024426.6(WT1):c.190C>G (p.Arg64Gly) |
single nucleotide variant |
not provided [RCV004772006] |
Chr11:32435171 [GRCh38] Chr11:32456717 [GRCh37] Chr11:11p13 |
uncertain significance |