LOC107982234 (WT1/WT1-AS bi-directional promoter region) - Rat Genome Database

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Gene: LOC107982234 (WT1/WT1-AS bi-directional promoter region) Homo sapiens
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Symbol: LOC107982234
Name: WT1/WT1-AS bi-directional promoter region
RGD ID: 38601292
Description: This genomic region encompasses regulatory elements in the 5' region of the Wilms tumor 1 (WT1) gene, including promoters and enhancers of WT1, as well as promoters for the WT1 antisense RNA (WT1-AS) gene. Wt1 protein autoregulates this region by increasing transcription from the WT1-AS gene and suppressing transcription from the WT1 promoter. The WT1-AS RNA may also bind to this region and downregulate WT1 transcription. Expression of WT1 is positively regulated through binding of paired box proteins and ETS variant 4. Both the WT1 and WT1-AS promoter undergo parent-of-origin specific imprinting, and the WT1 promoter is often methylated and silenced in tumor cells. Methylation-dependent repression may be blocked by binding of CCCTC-binding factor. Two subregions were shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells, where both are marked by the K3K4me1 histone modification and one is additionally marked by H3K27ac. [provided by RefSeq, Nov 2022]
Type: biological-region
RefSeq Status: REVIEWED
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381132,430,169 - 32,437,423 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371132,451,715 - 32,458,969 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01132,565,658 - 32,572,908 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:2173145   PMID:7478583   PMID:7629096   PMID:7731725   PMID:8045305   PMID:8086342   PMID:8132626   PMID:8290269   PMID:8406502   PMID:8414514   PMID:8621487   PMID:8861958  
PMID:9006935   PMID:9178767   PMID:9336463   PMID:9365158   PMID:9388203   PMID:9407061   PMID:10452544   PMID:10811108   PMID:10822272   PMID:11221883   PMID:11243407   PMID:12761165  
PMID:12960088   PMID:14681303   PMID:14737070   PMID:14988020   PMID:15752709   PMID:16134181   PMID:17210670   PMID:17634147   PMID:17940140   PMID:18064385   PMID:18483696   PMID:21658388  
PMID:24405639   PMID:26462627   PMID:26815508   PMID:27171388   PMID:30033119  


Genomics

Comparative Map Data
LOC107982234
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381132,430,169 - 32,437,423 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371132,451,715 - 32,458,969 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01132,565,658 - 32,572,908 (+)NCBIT2T-CHM13v2.0
LOC107983946
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392104,956,361 - 104,957,127 (+)NCBIGRCm39GRCm39mm39
GRCm382105,126,016 - 105,126,782 (+)NCBIGRCm38GRCm38mm10GRCm38

Variants

.
Variants in LOC107982234
672 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1576345LVC1_HLeft ventricular contractility QTL 1 (human)3.93Left ventricular contractility11797076733970767Human
406915330GWAS564306_HModerate albuminuria QTL GWAS564306 (human)3e-08Moderate albuminuria113243145132431452Human
407150464GWAS799440_HThrombocytopenia QTL GWAS799440 (human)3e-08Thrombocytopenia113243514832435149Human
407319296GWAS968272_HInguinal hernia QTL GWAS968272 (human)9e-12Inguinal hernia113243134232431343Human
407404482GWAS1053458_HBMI-adjusted waist-hip ratio QTL GWAS1053458 (human)8e-09BMI-adjusted waist-hip ratio113243612932436130Human
406960587GWAS609563_HHernia QTL GWAS609563 (human)2e-33Hernia113243673232436736Human
407339981GWAS988957_Hcardiovascular disease QTL GWAS988957 (human)4e-08cardiovascular disease113243726132437262Human
407404164GWAS1053140_HInguinal hernia QTL GWAS1053140 (human)3e-21Inguinal hernia113243612932436130Human
407404165GWAS1053141_HInguinal hernia QTL GWAS1053141 (human)3e-21Inguinal hernia113243622832436229Human
407404166GWAS1053142_HInguinal hernia QTL GWAS1053142 (human)3e-21Inguinal hernia113243667332436674Human
406921813GWAS570789_HAntihypertensive use measurement QTL GWAS570789 (human)5e-21Antihypertensive use measurement113243726132437262Human
1559104SCL15_HSerum cholesterol level QTL 15 (human)2.60.06Lipid levelhyperlipidemia susceptibility111589236841892368Human
407273438GWAS922414_Hpelvic organ prolapse QTL GWAS922414 (human)0.0000008pelvic organ prolapse113243726132437262Human
407187297GWAS836273_HInguinal hernia QTL GWAS836273 (human)1e-27Inguinal hernia113243726132437262Human
407295713GWAS944689_Hdiaphragmatic hernia QTL GWAS944689 (human)1e-14diaphragmatic hernia113243673232436736Human
407193321GWAS842297_HInguinal hernia QTL GWAS842297 (human)5e-10Inguinal hernia113243037432430375Human
407345832GWAS994808_HInguinal hernia QTL GWAS994808 (human)3e-37Inguinal hernia113243673232436736Human
407293750GWAS942726_HInguinal hernia QTL GWAS942726 (human)3e-21Inguinal hernia113243559232435593Human
407393849GWAS1042825_HBMI-adjusted waist-hip ratio QTL GWAS1042825 (human)6e-09BMI-adjusted waist-hip ratio113243612932436130Human
407293748GWAS942724_HInguinal hernia QTL GWAS942724 (human)6e-21Inguinal hernia113243398132433982Human
407293749GWAS942725_HInguinal hernia QTL GWAS942725 (human)8e-12Inguinal hernia113243514832435149Human
407046391GWAS695367_Hbody composition measurement QTL GWAS695367 (human)5e-11body composition measurement113243037432430375Human
407293746GWAS942722_HInguinal hernia QTL GWAS942722 (human)1e-11Inguinal hernia113243207632432077Human
407293747GWAS942723_HInguinal hernia QTL GWAS942723 (human)8e-12Inguinal hernia113243271632432717Human
407293744GWAS942720_HInguinal hernia QTL GWAS942720 (human)9e-20Inguinal hernia113243137932431380Human
406900662GWAS549638_Hvisceral:abdominal adipose tissue ratio measurement QTL GWAS549638 (human)6e-09visceral:abdominal adipose tissue ratio measurement113243726132437262Human
407131314GWAS780290_HInguinal hernia QTL GWAS780290 (human)4e-14Inguinal hernia113243726132437262Human
407293745GWAS942721_HInguinal hernia QTL GWAS942721 (human)9e-12Inguinal hernia113243139932431400Human
407319295GWAS968271_HInguinal hernia QTL GWAS968271 (human)9e-12Inguinal hernia113243037532430376Human
407293758GWAS942734_HInguinal hernia QTL GWAS942734 (human)1e-22Inguinal hernia113243726132437262Human
407319294GWAS968270_HInguinal hernia QTL GWAS968270 (human)7e-19Inguinal hernia113243037432430375Human
407293756GWAS942732_HInguinal hernia QTL GWAS942732 (human)9e-21Inguinal hernia113243673232436736Human
406960954GWAS609930_HHernia QTL GWAS609930 (human)2e-40Hernia113243037432430375Human
407347388GWAS996364_HInguinal hernia QTL GWAS996364 (human)2e-17Inguinal hernia113243673232436736Human
407293757GWAS942733_HInguinal hernia QTL GWAS942733 (human)2e-21Inguinal hernia113243696132436962Human
407293754GWAS942730_HInguinal hernia QTL GWAS942730 (human)2e-21Inguinal hernia113243643932436440Human
407293753GWAS942729_HInguinal hernia QTL GWAS942729 (human)2e-21Inguinal hernia113243638132436382Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC107982234 COSMIC
GTEx LOC107982234 GTEx
Human Proteome Map LOC107982234 Human Proteome Map
NCBI Gene LOC107982234 ENTREZGENE