7490[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 1355

<< First< Prev

Page of 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1544321.	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 GRCh37: Chr11:20101020-34485543 GRCh38: Chr11:20079474-34463996	ABTB2, ANO3, ANO3-AS1, ANO5, ARL14EP, ARL14EP-DT, BBOX1, BBOX1-AS1, BDNF, BDNF-AS, C11orf91, CAPRIN1, CAT, CCDC179, CCDC34, CCDC73, CD59, CSTF3, CSTF3-DT, DBX1, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FBXO3, FBXO3-DT, FIBIN, FSHB, GAS2, HIPK3, HTATIP2, IMMP1L, KCNA4, KIAA1549L, KIF18A, LGR4, LGR4-AS1, LIN7C, LINC00294, LINC00678, LINC01495, LINC01616, LINC02546, LINC02686, LINC02699, LINC02718, LINC02721, LINC02722, LINC02726, LINC02742, LINC02755, LINC02758, LINC02859, LINC03031, LMO2, LOC101928385, LOC105980003, LOC105980005, LOC105980073, LOC106007485, LOC106007493, LOC106014249, LOC106707172, LOC106707173, LOC107982234, LOC108178983, LOC108178984, LOC110120941, LOC110121388, LOC110121452, LOC111365162, LOC112067717, LOC112067718, LOC113939921, LOC116216130, LOC116216131, LOC116216132, LOC116216133, LOC121832789, LOC124421507, LOC124421508, LOC124421509, LOC124421510, LOC124421511, LOC124421512, LOC124421513, LOC124421514, LOC124421515, LOC124421516, LOC124421517, LOC124433243, LOC126861159, LOC126861160, LOC126861161, LOC126861162, LOC126861163, LOC126861164, LOC126861165, LOC126861166, LOC126861167, LOC126861168, LOC126861169, LOC126861170, LOC126861171, LOC126861172, LOC126861173, LOC126861174, LOC126861175, LOC126861176, LOC126861177, LOC126861178, LOC126861179, LOC126861180, LUZP2, METTL15, MIR610, MIR8054, MIR8068, MIR8087, MPPED2, MPPED2-AS1, MUC15, NAT10, NAV2, NELL1, PAUPAR, PAX6, PAX6-AS1, PAX6DRR, PAX6_HS2, PAX6_HS3, PAX6_HS8, PRMT3, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SLC6A5, SNORA88, SVIP, TCP11L1, WT1, WT1-AS		See cases	Pathogenic (Aug 30, 2010)	no assertion criteria provided
Select item 588582.	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 GRCh37: Chr11:22571661-38220709 GRCh38: Chr11:22550115-38199159	ABTB2, ANO3, ANO3-AS1, APIP, ARL14EP, ARL14EP-DT, BBOX1, BBOX1-AS1, BDNF, BDNF-AS, C11orf91, CAPRIN1, CAT, CCDC179, CCDC34, CCDC73, CD44, CD44-AS1, CD44-DT, CD59, COMMD9, CSTF3, CSTF3-DT, DCDC1, DEPDC7, DNAJC24, EHF, EIF3M, ELF5, ELP4, FANCF, FBXO3, FBXO3-DT, FIBIN, FJX1, FSHB, GAS2, HIPK3, IFTAP, IMMP1L, KCNA4, KIAA1549L, KIF18A, LDLRAD3, LGR4, LGR4-AS1, LIN7C, LINC00294, LINC00678, LINC01616, LINC02546, LINC02686, LINC02699, LINC02707, LINC02718, LINC02721, LINC02722, LINC02726, LINC02742, LINC02755, LINC02758, LINC02760, LINC02859, LINC03031, LMO2, LOC101928385, LOC101928510, LOC105980003, LOC105980005, LOC105980073, LOC106007485, LOC106007493, LOC106014249, LOC106707172, LOC106707173, LOC107982234, LOC108178983, LOC108178984, LOC110120941, LOC110121388, LOC110121452, LOC112067717, LOC112067718, LOC112081392, LOC112081393, LOC113939921, LOC116216130, LOC116216131, LOC116216132, LOC116216133, LOC116216134, LOC121392907, LOC121392908, LOC121832789, LOC121832790, LOC124421508, LOC124421509, LOC124421510, LOC124421511, LOC124421512, LOC124421513, LOC124421514, LOC124421515, LOC124421516, LOC124421517, LOC124433243, LOC124433244, LOC124433245, LOC124433246, LOC124433247, LOC126861162, LOC126861163, LOC126861164, LOC126861165, LOC126861166, LOC126861167, LOC126861168, LOC126861169, LOC126861170, LOC126861171, LOC126861172, LOC126861173, LOC126861174, LOC126861175, LOC126861176, LOC126861177, LOC126861178, LOC126861179, LOC126861180, LOC126861181, LOC126861182, LOC126861183, LOC126861184, LOC126861185, LOC126861186, LOC126861187, LOC126861188, LOC126861189, LOC126861190, LOC126861191, LOC126861192, LOC126861193, LUZP2, METTL15, MIR1343, MIR3973, MIR610, MIR8054, MIR8068, MIR8087, MPPED2, MPPED2-AS1, MUC15, NAT10, PAMR1, PAUPAR, PAX6, PAX6-AS1, PAX6DRR, PAX6_HS2, PAX6_HS3, PAX6_HS8, PDHX, PRR5L, PRRG4, QSER1, RAG1, RAG2, RCN1, SLC1A2, SLC5A12, SNORA88, SNORD164, SVIP, TCP11L1, TRAF6, TRIM44, WT1, WT1-AS		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1459693.	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 GRCh37: Chr11:26390509-35274523 GRCh38: Chr11:26368962-35252976	ABTB2, ANO3, APIP, ARL14EP, ARL14EP-DT, BBOX1, BBOX1-AS1, BDNF, BDNF-AS, C11orf91, CAPRIN1, CAT, CCDC34, CCDC73, CD44, CD44-AS1, CD44-DT, CD59, CSTF3, CSTF3-DT, DCDC1, DEPDC7, DNAJC24, EHF, EIF3M, ELF5, ELP4, FBXO3, FBXO3-DT, FIBIN, FSHB, HIPK3, IMMP1L, KCNA4, KIAA1549L, KIF18A, LGR4, LGR4-AS1, LIN7C, LINC00294, LINC00678, LINC01616, LINC02546, LINC02707, LINC02721, LINC02722, LINC02742, LINC02755, LINC02758, LINC02859, LINC03031, LMO2, LOC101928385, LOC105980003, LOC105980005, LOC105980073, LOC106007485, LOC106007493, LOC106014249, LOC106707172, LOC106707173, LOC107982234, LOC108178983, LOC108178984, LOC110120941, LOC110121388, LOC110121452, LOC112067717, LOC112067718, LOC112081392, LOC112081393, LOC116216130, LOC116216131, LOC116216132, LOC116216133, LOC116216134, LOC121392907, LOC124421509, LOC124421510, LOC124421511, LOC124421512, LOC124421513, LOC124421514, LOC124421515, LOC124421516, LOC124421517, LOC124433243, LOC124433244, LOC126861169, LOC126861170, LOC126861171, LOC126861172, LOC126861173, LOC126861174, LOC126861175, LOC126861176, LOC126861177, LOC126861178, LOC126861179, LOC126861180, LOC126861181, LOC126861182, LOC126861183, LOC126861184, LOC126861185, LOC126861186, METTL15, MIR1343, MIR610, MIR8068, MIR8087, MPPED2, MPPED2-AS1, MUC15, NAT10, PAUPAR, PAX6, PAX6-AS1, PAX6DRR, PAX6_HS2, PAX6_HS3, PAX6_HS8, PDHX, PRRG4, QSER1, RCN1, SLC1A2, SLC5A12, SNORA88, SNORD164, TCP11L1, WT1, WT1-AS		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 3043704.	NM_024426.6(WT1):c.*1239T>A GRCh37: Chr11:32409365 GRCh38: Chr11:32387819	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 3043715.	NM_024426.6(WT1):c.*1225T>C GRCh37: Chr11:32409379 GRCh38: Chr11:32387833	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3043726.	NM_024426.6(WT1):c.*1209A>G GRCh37: Chr11:32409395 GRCh38: Chr11:32387849	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 3043737.	NM_024426.6(WT1):c.*1167T>G GRCh37: Chr11:32409437 GRCh38: Chr11:32387891	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3043748.	NM_024426.6(WT1):c.*1132A>T GRCh37: Chr11:32409472 GRCh38: Chr11:32387926	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 3043759.	NM_024426.6(WT1):c.*1098C>T GRCh37: Chr11:32409506 GRCh38: Chr11:32387960	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87941210.	NM_024426.6(WT1):c.*1066T>G GRCh37: Chr11:32409538 GRCh38: Chr11:32387992	WT1		Wilms tumor 1, Meacham syndrome, Nephrotic syndrome, type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30437611.	NM_024426.6(WT1):c.*1058G>T GRCh37: Chr11:32409546 GRCh38: Chr11:32388000	WT1		11p partial monosomy syndrome, Nephroblastoma, Nephrotic syndrome, type 4, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30438012.	NM_024426.6(WT1):c.*1021GT[18] GRCh37: Chr11:32409549-32409550 GRCh38: Chr11:32388003-32388004	WT1		Nephroblastoma, Nephrotic syndrome, type 4, 11p partial monosomy syndrome, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30437813.	NM_024426.6(WT1):c.*1021GT[20] GRCh37: Chr11:32409549-32409550 GRCh38: Chr11:32388003-32388004	WT1		11p partial monosomy syndrome, Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30437714.	NM_024426.6(WT1):c.*1021GT[19] GRCh37: Chr11:32409549-32409550 GRCh38: Chr11:32388003-32388004	WT1		11p partial monosomy syndrome, Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30438115.	NM_024426.6(WT1):c.*1021GT[14] GRCh37: Chr11:32409550-32409555 GRCh38: Chr11:32388004-32388009	WT1		Nephroblastoma, Nephrotic syndrome, type 4, 11p partial monosomy syndrome, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30437916.	NM_024426.6(WT1):c.*1021GT[15] GRCh37: Chr11:32409550-32409553 GRCh38: Chr11:32388004-32388007	WT1		Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30438217.	NM_024426.6(WT1):c.*1049del GRCh37: Chr11:32409555 GRCh38: Chr11:32388009	WT1		Nephrotic syndrome, type 4, Nephroblastoma, Meacham syndrome	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30438318.	NM_024426.6(WT1):c.*978dup GRCh37: Chr11:32409625-32409626 GRCh38: Chr11:32388079-32388080	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Nephroblastoma	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30438419.	NM_024426.6(WT1):c.*903G>A GRCh37: Chr11:32409701 GRCh38: Chr11:32388155	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30438520.	NM_024426.6(WT1):c.*897G>C GRCh37: Chr11:32409707 GRCh38: Chr11:32388161	WT1		Nephroblastoma, Nephrotic syndrome, type 4, 11p partial monosomy syndrome, Meacham syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30438721.	NM_024426.6(WT1):c.*864T>A GRCh37: Chr11:32409740 GRCh38: Chr11:32388194	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30438622.	NM_024426.6(WT1):c.*864T>G GRCh37: Chr11:32409740 GRCh38: Chr11:32388194	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30438823.	NM_024426.6(WT1):c.*841C>A GRCh37: Chr11:32409763 GRCh38: Chr11:32388217	WT1		11p partial monosomy syndrome, Nephroblastoma, Nephrotic syndrome, type 4, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30438924.	NM_024426.6(WT1):c.*835A>G GRCh37: Chr11:32409769 GRCh38: Chr11:32388223	WT1		Nephrotic syndrome, type 4, Wilms tumor 1, Meacham syndrome	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30439025.	NM_024426.6(WT1):c.*820G>C GRCh37: Chr11:32409784 GRCh38: Chr11:32388238	WT1		Nephrotic syndrome, type 4, Wilms tumor 1, Meacham syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30439126.	NM_024426.6(WT1):c.*785C>A GRCh37: Chr11:32409819 GRCh38: Chr11:32388273	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30439227.	NM_024426.6(WT1):c.*768A>C GRCh37: Chr11:32409836 GRCh38: Chr11:32388290	WT1		11p partial monosomy syndrome, Nephroblastoma, Nephrotic syndrome, type 4, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30439328.	NM_024426.6(WT1):c.*741G>T GRCh37: Chr11:32409863 GRCh38: Chr11:32388317	WT1		11p partial monosomy syndrome, Nephroblastoma, Nephrotic syndrome, type 4, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30439429.	NM_024426.6(WT1):c.*707C>A GRCh37: Chr11:32409897 GRCh38: Chr11:32388351	WT1		Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30439530.	NM_024426.6(WT1):c.*685G>T GRCh37: Chr11:32409919 GRCh38: Chr11:32388373	WT1		Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30439631.	NM_024426.6(WT1):c.*666A>G GRCh37: Chr11:32409938 GRCh38: Chr11:32388392	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87801032.	NM_024426.6(WT1):c.*629T>C GRCh37: Chr11:32409975 GRCh38: Chr11:32388429	WT1		Meacham syndrome, Wilms tumor 1, Nephrotic syndrome, type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30439733.	NM_024426.6(WT1):c.*614A>C GRCh37: Chr11:32409990 GRCh38: Chr11:32388444	WT1		Nephrotic syndrome, type 4, Wilms tumor 1, Meacham syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30439834.	NM_024426.6(WT1):c.*611C>T GRCh37: Chr11:32409993 GRCh38: Chr11:32388447	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Wilms tumor 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30439935.	NM_024426.6(WT1):c.*602A>G GRCh37: Chr11:32410002 GRCh38: Chr11:32388456	WT1		Nephrotic syndrome, type 4, Wilms tumor 1, Meacham syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30440036.	NM_024426.6(WT1):c.*574del GRCh37: Chr11:32410030 GRCh38: Chr11:32388484	WT1		Meacham syndrome, Nephrotic syndrome, type 4, Nephroblastoma, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30440137.	NM_024426.6(WT1):c.*542G>A GRCh37: Chr11:32410062 GRCh38: Chr11:32388516	WT1		Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4, 11p partial monosomy syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30440238.	NM_024426.6(WT1):c.*534C>T GRCh37: Chr11:32410070 GRCh38: Chr11:32388524	WT1		Wilms tumor 1, Nephrotic syndrome, type 4, Meacham syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30440339.	NM_024426.6(WT1):c.*513C>T GRCh37: Chr11:32410091 GRCh38: Chr11:32388545	WT1		Meacham syndrome, Wilms tumor 1, Nephrotic syndrome, type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30440440.	NM_024426.6(WT1):c.*460C>A GRCh37: Chr11:32410144 GRCh38: Chr11:32388598	WT1		Meacham syndrome, Wilms tumor 1, Nephrotic syndrome, type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30440541.	NM_024426.6(WT1):c.*393G>T GRCh37: Chr11:32410211 GRCh38: Chr11:32388665	WT1		Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30440642.	NM_024426.6(WT1):c.*366C>A GRCh37: Chr11:32410238 GRCh38: Chr11:32388692	WT1		11p partial monosomy syndrome, Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30440743.	NM_024426.6(WT1):c.*354G>T GRCh37: Chr11:32410250 GRCh38: Chr11:32388704	WT1		11p partial monosomy syndrome, Nephroblastoma, Nephrotic syndrome, type 4, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30440844.	NM_024426.6(WT1):c.*345G>A GRCh37: Chr11:32410259 GRCh38: Chr11:32388713	WT1		Meacham syndrome, Wilms tumor 1, Nephrotic syndrome, type 4	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30440945.	NM_024426.6(WT1):c.*269G>T GRCh37: Chr11:32410335 GRCh38: Chr11:32388789	WT1		11p partial monosomy syndrome, Nephroblastoma, Nephrotic syndrome, type 4, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30441046.	NM_024426.6(WT1):c.*267G>C GRCh37: Chr11:32410337 GRCh38: Chr11:32388791	WT1		not provided, Meacham syndrome, Nephrotic syndrome, type 4, Frasier syndrome, Drash syndrome, Wilms tumor 1	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30441147.	NM_024426.6(WT1):c.*239G>A GRCh37: Chr11:32410365 GRCh38: Chr11:32388819	WT1		Meacham syndrome, Wilms tumor 1, Nephrotic syndrome, type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30441248.	NM_024426.6(WT1):c.*224A>G GRCh37: Chr11:32410380 GRCh38: Chr11:32388834	WT1		not provided, Meacham syndrome, Wilms tumor 1, Nephrotic syndrome, type 4, Frasier syndrome, Drash syndrome	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30441349.	NM_024426.6(WT1):c.*159G>C GRCh37: Chr11:32410445 GRCh38: Chr11:32388899	WT1		Meacham syndrome, Wilms tumor 1, Nephrotic syndrome, type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30441450.	NM_024426.6(WT1):c.*138G>A GRCh37: Chr11:32410466 GRCh38: Chr11:32388920	WT1		11p partial monosomy syndrome, Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30441551.	NM_024426.6(WT1):c.*110C>T GRCh37: Chr11:32410494 GRCh38: Chr11:32388948	WT1		Meacham syndrome, Nephrotic syndrome, type 4, Wilms tumor 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87952152.	NM_024426.6(WT1):c.*100A>G GRCh37: Chr11:32410504 GRCh38: Chr11:32388958	WT1		Wilms tumor 1, Meacham syndrome, Nephrotic syndrome, type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30441653.	NM_024426.6(WT1):c.*88A>G GRCh37: Chr11:32410516 GRCh38: Chr11:32388970	WT1		not provided, Wilms tumor 1, Meacham syndrome, Frasier syndrome, Nephrotic syndrome, type 4, Drash syndrome	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30441754.	NM_024426.6(WT1):c.*16G>T GRCh37: Chr11:32410588 GRCh38: Chr11:32389042	WT1		not provided, Wilms tumor 1, Meacham syndrome, Drash syndrome, Nephrotic syndrome, type 4, Frasier syndrome	Benign/Likely benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87795455.	NM_024426.6(WT1):c.*12C>T GRCh37: Chr11:32410592 GRCh38: Chr11:32389046	WT1		Meacham syndrome, Wilms tumor 1, Nephrotic syndrome, type 4	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 66505456.	NC_000011.10:g.(?_32389048)_(32435355_?)del GRCh37: Chr11:32410594-32456901 GRCh38: Chr11:32389048-32435355	LOC106707172, LOC107982234, WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 65410157.	NC_000011.9:g.(?_32410594)_(32421600_?)dup GRCh37: Chr11:32410594-32421600 GRCh38: Chr11:32389048-32400054	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome	Uncertain significance (Dec 23, 2018)	criteria provided, single submitter
Select item 87795558.	NM_024426.6(WT1):c.*5T>C GRCh37: Chr11:32410599 GRCh38: Chr11:32389053	WT1		Meacham syndrome, Wilms tumor 1, Nephrotic syndrome, type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 101652559.	NM_024426.6(WT1):c.1569A>G (p.Ter523Trp) GRCh37: Chr11:32410604 GRCh38: Chr11:32389058	WT1		Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 54316360.	NC_000011.10:g.(?_32389058)_(32435345_?)del GRCh37: Chr11:32410604-32456891 GRCh38: Chr11:32389058-32435345	LOC106707172, LOC107982234, WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 51592261.	NM_024426.6(WT1):c.1568G>A (p.Ter523=) GRCh37: Chr11:32410605 GRCh38: Chr11:32389059	WT1		Kidney disorder, Wilms tumor 1, Meacham syndrome, Nephrotic syndrome, type 4, Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 162975462.	NM_024426.6(WT1):c.1563G>T (p.Ala521=) GRCh37: Chr11:32410610 GRCh38: Chr11:32389064	WT1		Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome	Likely benign (Nov 15, 2021)	criteria provided, single submitter
Select item 41408663.	NM_024426.6(WT1):c.1563G>A (p.Ala521=) GRCh37: Chr11:32410610 GRCh38: Chr11:32389064	WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 66608864.	NM_024426.6(WT1):c.1562C>T (p.Ala521Val) GRCh37: Chr11:32410611 GRCh38: Chr11:32389065	WT1	A125V, A287V, A301V, A518V, A521V, A501V, A463V, A490V, A504V, A474V, A477V, A499V, A516V, A267V, A473V	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Aniridia 1, Nephrotic syndrome, type 4, Drash syndrome, Frasier syndrome, Wilms tumor 1, Meacham syndrome, Mesothelioma, malignant11p partial monosomy syndrome, not provided, ...see more	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95235065.	NM_024426.6(WT1):c.1561G>C (p.Ala521Pro) GRCh37: Chr11:32410612 GRCh38: Chr11:32389066	WT1	A125P, A301P, A287P, A501P, A518P, A521P, A473P, A490P, A504P, A516P, A267P, A474P, A499P, A463P, A477P	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 93992966.	NM_024426.6(WT1):c.1559T>C (p.Leu520Pro) GRCh37: Chr11:32410614 GRCh38: Chr11:32389068	WT1	L517P, L300P, L520P, L124P, L286P, L500P, L266P, L473P, L515P, L472P, L503P, L489P, L462P, L476P, L498P	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Inborn genetic diseases, Meacham syndrome, Mesothelioma, malignant, Aniridia 1, Drash syndrome, Nephrotic syndrome, type 4, Frasier syndromeWilms tumor 1, 11p partial monosomy syndrome, ...see more	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114603467.	NM_024426.6(WT1):c.1557G>A (p.Gln519=) GRCh37: Chr11:32410616 GRCh38: Chr11:32389070	WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Mar 30, 2019)	criteria provided, single submitter
Select item 84672568.	NM_024426.6(WT1):c.1555C>T (p.Gln519Ter) GRCh37: Chr11:32410618 GRCh38: Chr11:32389072	WT1	Q285, Q499, Q123, Q519, Q299, Q516, Q265, Q471, Q497, Q514, Q461, Q472, Q502, Q475, Q488*	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 7833469.	NM_024426.6(WT1):c.1554C>T (p.Leu518=) GRCh37: Chr11:32410619 GRCh38: Chr11:32389073	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 148776970.	NM_024426.6(WT1):c.1545G>A (p.Met515Ile) GRCh37: Chr11:32410628 GRCh38: Chr11:32389082	WT1	M281I, M515I, M295I, M495I, M512I, M119I, M498I, M493I, M510I, M261I, M457I, M467I, M484I, M468I, M471I	Drash syndrome, Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 210430871.	NM_024426.6(WT1):c.1541A>C (p.Asn514Thr) GRCh37: Chr11:32410632 GRCh38: Chr11:32389086	WT1	N294T, N456T, N467T, N509T, N511T, N466T, N470T, N492T, N497T, N118T, N494T, N260T, N280T, N483T, N514T	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 58475672.	NM_024426.6(WT1):c.1541A>G (p.Asn514Ser) GRCh37: Chr11:32410632 GRCh38: Chr11:32389086	WT1	N294S, N514S, N280S, N494S, N118S, N511S, N467S, N470S, N466S, N483S, N497S, N260S, N456S, N492S	Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome, Wilms tumor 1	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 47669273.	NM_024426.6(WT1):c.1541A>T (p.Asn514Ile) GRCh37: Chr11:32410632 GRCh38: Chr11:32389086	WT1	N294I, N514I, N118I, N511I, N280I, N494I, N483I, N467I, N260I, N466I, N492I, N497I, N456I, N470I	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 47669174.	NM_024426.6(WT1):c.1538G>C (p.Arg513Thr) GRCh37: Chr11:32410635 GRCh38: Chr11:32389089	WT1	R293T, R513T, R117T, R279T, R510T, R493T, R496T, R259T, R455T, R469T, R482T, R465T, R466T, R491T	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 107703675.	NM_024426.6(WT1):c.1534C>T (p.Gln512Ter) GRCh37: Chr11:32410639 GRCh38: Chr11:32389093	WT1	Q116, Q278, Q292, Q492, Q509, Q512, Q464, Q454, Q465, Q490, Q495, Q507, Q258, Q468, Q481*	Nephrotic syndrome, type 4	Pathogenic	criteria provided, single submitter
Select item 100987976.	NM_024426.6(WT1):c.1529T>A (p.Met510Lys) GRCh37: Chr11:32410644 GRCh38: Chr11:32389098	WT1	M114K, M276K, M290K, M490K, M507K, M510K, M463K, M466K, M479K, M493K, M256K, M452K, M462K, M505K, M488K	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 54312877.	NM_024426.6(WT1):c.1528A>G (p.Met510Val) GRCh37: Chr11:32410645 GRCh38: Chr11:32389099	WT1	M510V, M290V, M276V, M114V, M507V, M490V, M452V, M462V, M463V, M488V, M493V, M466V, M256V, M479V	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 150002078.	NM_024426.6(WT1):c.1526A>T (p.Asn509Ile) GRCh37: Chr11:32410647 GRCh38: Chr11:32389101	WT1	N275I, N289I, N506I, N489I, N509I, N113I, N451I, N461I, N504I, N255I, N465I, N492I, N462I, N478I, N487I	Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 47669079.	NM_024426.6(WT1):c.1524C>A (p.His508Gln) GRCh37: Chr11:32410649 GRCh38: Chr11:32389103	WT1	H288Q, H508Q, H488Q, H505Q, H112Q, H274Q, H450Q, H254Q, H460Q, H464Q, H477Q, H486Q, H491Q, H461Q	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 97171580.	NM_024426.6(WT1):c.1517G>T (p.Arg506Leu) GRCh37: Chr11:32410656 GRCh38: Chr11:32389110	WT1	R272L, R110L, R486L, R503L, R286L, R506L, R252L, R458L, R475L, R484L, R489L, R501L, R448L, R459L, R462L	Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 216991281.	NM_024426.6(WT1):c.1516C>T (p.Arg506Cys) GRCh37: Chr11:32410657 GRCh38: Chr11:32389111	WT1	R272C, R475C, R503C, R110C, R462C, R252C, R448C, R486C, R489C, R286C, R458C, R459C, R484C, R501C, R506C	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 47668982.	NM_024426.6(WT1):c.1515C>A (p.Val505=) GRCh37: Chr11:32410658 GRCh38: Chr11:32389112	WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 95610483.	NM_024426.6(WT1):c.1513G>C (p.Val505Leu) GRCh37: Chr11:32410660 GRCh38: Chr11:32389114	WT1	V109L, V271L, V285L, V502L, V505L, V485L, V457L, V458L, V461L, V500L, V474L, V251L, V483L, V488L, V447L	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 208481684.	NM_024426.6(WT1):c.1510T>G (p.Leu504Val) GRCh37: Chr11:32410663 GRCh38: Chr11:32389117	WT1	L456V, L457V, L487V, L270V, L473V, L499V, L504V, L108V, L250V, L446V, L482V, L501V, L284V, L460V, L484V	Wilms tumor 1, Drash syndrome, 11p partial monosomy syndrome, Frasier syndrome	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 114390085.	NM_024426.6(WT1):c.1500G>C (p.Arg500=) GRCh37: Chr11:32410673 GRCh38: Chr11:32389127	WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Jul 23, 2020)	criteria provided, single submitter
Select item 66411386.	NM_024426.6(WT1):c.1499G>A (p.Arg500Gln) GRCh37: Chr11:32410674 GRCh38: Chr11:32389128	WT1	R480Q, R497Q, R280Q, R104Q, R266Q, R500Q, R442Q, R483Q, R495Q, R452Q, R453Q, R456Q, R469Q, R246Q, R478Q	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 250527187.	NM_024426.6(WT1):c.1498C>T (p.Arg500Trp) GRCh37: Chr11:32410675 GRCh38: Chr11:32389129	WT1	R104W, R246W, R266W, R280W, R442W, R452W, R453W, R456W, R469W, R478W, R480W, R483W, R495W, R497W, R500W	WT1-related disorder	Likely pathogenic (Feb 7, 2023)	criteria provided, single submitter
Select item 139135588.	NM_024426.6(WT1):c.1496C>G (p.Ala499Gly) GRCh37: Chr11:32410677 GRCh38: Chr11:32389131	WT1	A103G, A279G, A479G, A496G, A499G, A265G, A452G, A482G, A451G, A477G, A441G, A494G, A245G, A455G, A468G	Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 65584789.	NM_024426.6(WT1):c.1487A>G (p.Lys496Arg) GRCh37: Chr11:32410686 GRCh38: Chr11:32389140	WT1	K476R, K496R, K262R, K493R, K100R, K276R, K438R, K452R, K448R, K449R, K242R, K479R, K465R, K474R, K491R	Aniridia 1, Meacham syndrome, Mesothelioma, malignant, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Nephrotic syndrome, type 4, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndromeFrasier syndrome, ...see more	Uncertain significance (Oct 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 209057390.	NM_024426.6(WT1):c.1485G>T (p.Gln495His) GRCh37: Chr11:32410688 GRCh38: Chr11:32389142	WT1	Q261H, Q275H, Q437H, Q464H, Q473H, Q475H, Q490H, Q495H, Q241H, Q451H, Q99H, Q447H, Q492H, Q448H, Q478H	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 47668891.	NM_024426.6(WT1):c.1479T>C (p.Ser493=) GRCh37: Chr11:32410694 GRCh38: Chr11:32389148	WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 57860792.	NM_024426.6(WT1):c.1478G>A (p.Ser493Asn) GRCh37: Chr11:32410695 GRCh38: Chr11:32389149	WT1	S273N, S493N, S259N, S490N, S97N, S473N, S239N, S446N, S449N, S435N, S462N, S471N, S445N, S476N	Wilms tumor 1, Frasier syndrome, Wilms tumor 1, Drash syndrome, 11p partial monosomy syndrome, Frasier syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95114193.	NM_024426.6(WT1):c.1477A>G (p.Ser493Gly) GRCh37: Chr11:32410696 GRCh38: Chr11:32389150	WT1	S493G, S97G, S473G, S490G, S259G, S273G, S449G, S471G, S476G, S488G, S239G, S445G, S446G, S462G, S435G	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64953694.	NM_024426.6(WT1):c.1477A>C (p.Ser493Arg) GRCh37: Chr11:32410696 GRCh38: Chr11:32389150	WT1	S273R, S473R, S493R, S259R, S490R, S97R, S471R, S476R, S239R, S435R, S446R, S445R, S462R, S449R, S488R	Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 166630495.	NM_024426.6(WT1):c.1476A>G (p.Pro492=) GRCh37: Chr11:32410697 GRCh38: Chr11:32389151	WT1		Drash syndrome, Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome	Likely benign (Oct 1, 2021)	criteria provided, single submitter
Select item 54312396.	NM_024426.6(WT1):c.1474C>T (p.Pro492Ser) GRCh37: Chr11:32410699 GRCh38: Chr11:32389153	WT1	P272S, P492S, P489S, P258S, P472S, P96S, P444S, P434S, P448S, P475S, P470S, P238S, P445S, P461S	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 24147797.	NM_024426.6(WT1):c.1469G>A (p.Arg490Gln) GRCh37: Chr11:32410704 GRCh38: Chr11:32389158	WT1	R270Q, R490Q, R256Q, R470Q, R487Q, R94Q, R446Q, R459Q, R236Q, R442Q, R443Q, R468Q, R473Q, R432Q	Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 54312798.	NM_024426.6(WT1):c.1468C>T (p.Arg490Trp) GRCh37: Chr11:32410705 GRCh38: Chr11:32389159	WT1	R270W, R490W, R487W, R94W, R256W, R470W, R459W, R432W, R443W, R442W, R446W, R236W, R468W, R473W	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 160632599.	NM_024426.6(WT1):c.1467T>C (p.Cys489=) GRCh37: Chr11:32410706 GRCh38: Chr11:32389160	WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Sep 23, 2021)	criteria provided, single submitter
Select item 765521100.	NM_024426.6(WT1):c.1464C>T (p.Ser488=) GRCh37: Chr11:32410709 GRCh38: Chr11:32389163	WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Jun 4, 2018)	criteria provided, single submitter

<< First< Prev

Page of 14