ClinVar for MedGen (Select 10221) - ClinVar

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Items: 41

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9731901.	NM_005762.3(TRIM28):c.2101C>T (p.Gln701Ter) GRCh37: Chr19:59061222 GRCh38: Chr19:58549855	TRIM28	Q701*	Nephroblastoma	Pathogenic (Jul 13, 2020)	criteria provided, single submitter
Select item 4387912.	NM_001127208.3(TET2):c.4456T>C (p.Ser1486Pro) GRCh37: Chr4:106193994 GRCh38: Chr4:105272837	TET2, TET2-AS1	S1486P	Nephroblastoma	other (May 1, 2016)	no assertion criteria provided
Select item 4387743.	NM_152383.5(DIS3L2):c.2381_2382del (p.Arg794fs) GRCh37: Chr2:233199430-233199431 GRCh38: Chr2:232334720-232334721	DIS3L2	R794fs	Nephroblastoma	Likely pathogenic (Jan 30, 2014)	no assertion criteria provided
Select item 4387734.	NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs) GRCh37: Chr22:29091856-29091857 GRCh38: Chr22:28695868-28695869	CHEK2	T338fs, T367fs, T410fs, T146fs, T300fs	Nephroblastoma	Pathogenic (May 28, 2015)	no assertion criteria provided
Select item 4387655.	NM_003506.4(FZD6):c.346C>T (p.Arg116Ter) GRCh37: Chr8:104330986 GRCh38: Chr8:103318758	FZD6	R116, R84	not provided	Pathogenic (Nov 24, 2017)	criteria provided, single submitter
Select item 4387586.	NM_001904.4(CTNNB1):c.770C>T (p.Thr257Ile) GRCh37: Chr3:41267186 GRCh38: Chr3:41225695	CTNNB1	T257I, T250I	Nephroblastoma	other (May 1, 2016)	no assertion criteria provided
Select item 4066907.	NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup) GRCh37: Chr11:32456484-32456485 GRCh38: Chr11:32434938-32434939	LOC107982234, WT1		Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Nephroblastoma, Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3044368.	NM_024426.6(WT1):c.-94G>C GRCh37: Chr11:32457000 GRCh38: Chr11:32435454	LOC107982234, WT1		11p partial monosomy syndrome, Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3044359.	NM_024426.6(WT1):c.-90T>C GRCh37: Chr11:32456996 GRCh38: Chr11:32435450	LOC107982234, WT1		11p partial monosomy syndrome, Meacham syndrome, Nephroblastoma, Nephrotic syndrome, type 4	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30443410.	NM_024426.6(WT1):c.-86T>C GRCh37: Chr11:32456992 GRCh38: Chr11:32435446	LOC107982234, WT1		11p partial monosomy syndrome, Nephrotic syndrome, type 4, Meacham syndrome, Nephroblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30443311.	NM_024426.6(WT1):c.-82A>C GRCh37: Chr11:32456988 GRCh38: Chr11:32435442	LOC107982234, WT1		11p partial monosomy syndrome, Nephrotic syndrome, type 4, Meacham syndrome, Nephroblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30443112.	NM_024426.6(WT1):c.-31G>T GRCh37: Chr11:32456937 GRCh38: Chr11:32435391	LOC107982234, WT1		11p partial monosomy syndrome, Nephrotic syndrome, type 4, Nephroblastoma, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30443013.	NM_024426.6(WT1):c.136G>T (p.Ala46Ser) GRCh37: Chr11:32456771 GRCh38: Chr11:32435225	LOC107982234, WT1	A46S	11p partial monosomy syndrome, Nephrotic syndrome, type 4, Meacham syndrome, Nephroblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30442714.	NM_024426.6(WT1):c.247G>T (p.Ala83Ser) GRCh37: Chr11:32456660 GRCh38: Chr11:32435114	LOC107982234, WT1	A83S	Meacham syndrome, Nephrotic syndrome, type 4, Nephroblastoma, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30442615.	NM_024426.6(WT1):c.285C>T (p.Gly95=) GRCh37: Chr11:32456622 GRCh38: Chr11:32435076	LOC107982234, WT1		Nephrotic syndrome, type 4, Meacham syndrome, Nephroblastoma, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30441416.	NM_024426.6(WT1):c.*138G>A GRCh37: Chr11:32410466 GRCh38: Chr11:32388920	WT1		Meacham syndrome, Nephroblastoma, 11p partial monosomy syndrome, Nephrotic syndrome, type 4	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30440917.	NM_024426.6(WT1):c.*269G>T GRCh37: Chr11:32410335 GRCh38: Chr11:32388789	WT1		Nephroblastoma, 11p partial monosomy syndrome, Meacham syndrome, Nephrotic syndrome, type 4	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30440718.	NM_024426.6(WT1):c.*354G>T GRCh37: Chr11:32410250 GRCh38: Chr11:32388704	WT1		Nephroblastoma, 11p partial monosomy syndrome, Meacham syndrome, Nephrotic syndrome, type 4	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30440619.	NM_024426.6(WT1):c.*366C>A GRCh37: Chr11:32410238 GRCh38: Chr11:32388692	WT1		Nephroblastoma, 11p partial monosomy syndrome, Meacham syndrome, Nephrotic syndrome, type 4	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30440520.	NM_024426.6(WT1):c.*393G>T GRCh37: Chr11:32410211 GRCh38: Chr11:32388665	WT1		Nephroblastoma, 11p partial monosomy syndrome, Meacham syndrome, Nephrotic syndrome, type 4	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30440121.	NM_024426.6(WT1):c.*542G>A GRCh37: Chr11:32410062 GRCh38: Chr11:32388516	WT1		Nephrotic syndrome, type 4, Nephroblastoma, 11p partial monosomy syndrome, Meacham syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30440022.	NM_024426.6(WT1):c.*574del GRCh37: Chr11:32410030 GRCh38: Chr11:32388484	WT1		11p partial monosomy syndrome, Nephrotic syndrome, type 4, Meacham syndrome, Nephroblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30439523.	NM_024426.6(WT1):c.*685G>T GRCh37: Chr11:32409919 GRCh38: Chr11:32388373	WT1		Nephrotic syndrome, type 4, Nephroblastoma, 11p partial monosomy syndrome, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30439424.	NM_024426.6(WT1):c.*707C>A GRCh37: Chr11:32409897 GRCh38: Chr11:32388351	WT1		11p partial monosomy syndrome, Nephrotic syndrome, type 4, Nephroblastoma, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30439325.	NM_024426.6(WT1):c.*741G>T GRCh37: Chr11:32409863 GRCh38: Chr11:32388317	WT1		Meacham syndrome, Nephrotic syndrome, type 4, Nephroblastoma, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30439226.	NM_024426.6(WT1):c.*768A>C GRCh37: Chr11:32409836 GRCh38: Chr11:32388290	WT1		11p partial monosomy syndrome, Nephrotic syndrome, type 4, Nephroblastoma, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30438827.	NM_024426.6(WT1):c.*841C>A GRCh37: Chr11:32409763 GRCh38: Chr11:32388217	WT1		Nephrotic syndrome, type 4, Meacham syndrome, 11p partial monosomy syndrome, Nephroblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30438528.	NM_024426.6(WT1):c.*897G>C GRCh37: Chr11:32409707 GRCh38: Chr11:32388161	WT1		11p partial monosomy syndrome, Nephrotic syndrome, type 4, Nephroblastoma, Meacham syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30438329.	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 30438230.	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 30438131.	NM_024426.6(WT1):c.*1021GT[14] GRCh37: Chr11:32409550-32409555 GRCh38: Chr11:32388004-32388009	WT1		Nephrotic syndrome, type 4, Nephroblastoma, 11p partial monosomy syndrome, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30438032.	NM_024426.6(WT1):c.*1021GT[18] GRCh37: Chr11:32409549-32409550 GRCh38: Chr11:32388003-32388004	WT1		Nephroblastoma, Nephrotic syndrome, type 4, Meacham syndrome, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30437933.	NM_024426.6(WT1):c.*1021GT[15] GRCh37: Chr11:32409550-32409553 GRCh38: Chr11:32388004-32388007	WT1		Nephroblastoma, Nephrotic syndrome, type 4, Meacham syndrome, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30437834.	NM_024426.6(WT1):c.*1021GT[20] GRCh37: Chr11:32409549-32409550 GRCh38: Chr11:32388003-32388004	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Nephroblastoma, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30437735.	NM_024426.6(WT1):c.*1021GT[19] GRCh37: Chr11:32409549-32409550 GRCh38: Chr11:32388003-32388004	WT1		Nephrotic syndrome, type 4, Meacham syndrome, Nephroblastoma, 11p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30437636.	NM_024426.6(WT1):c.*1058G>T GRCh37: Chr11:32409546 GRCh38: Chr11:32388000	WT1		Nephroblastoma, 11p partial monosomy syndrome, Nephrotic syndrome, type 4, Meacham syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 18432637.	NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) GRCh37: Chr18:48584797 GRCh38: Chr18:51058427	SMAD4	P292L	Hereditary cancer-predisposing syndrome, not provided, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Nephroblastoma, Juvenile polyposis syndrome	Conflicting interpretations of pathogenicity (Feb 7, 2023)	criteria provided, conflicting interpretations
Select item 9222038.	NM_005120.3(MED12):c.131G>A (p.Gly44Asp) GRCh37: ChrX:70339254 GRCh38: ChrX:71119404	MED12	G44D	Nephroblastoma	other (May 1, 2016)	no assertion criteria provided
Select item 1758839.	NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) GRCh37: Chr3:41266137 GRCh38: Chr3:41224646	CTNNB1, LOC126806658	S45F, S38F	Melanoma, Hepatocellular carcinoma, Nephroblastoma, Malignant melanoma of skin, Lung adenocarcinoma, Neoplasm of the large intestine, Transitional cell carcinoma of the bladder, Gallbladder cancer, Disease, Prostate adenocarcinoma, Malignant neoplasm of body of uterusAdrenal cortex carcinoma, ...see more	Pathogenic/Likely pathogenic; other (Oct 30, 2020)	no assertion criteria provided
Select item 1757640.	NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) GRCh37: Chr3:41266136-41266138 GRCh38: Chr3:41224643-41224645	CTNNB1, LOC126806658	S45del, S38del	Nephroblastoma, Carcinoma of colon	Pathogenic; other (May 1, 2016)	no assertion criteria provided
Select item 1396141.	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) GRCh37: Chr7:140453136 GRCh38: Chr7:140753336	BRAF	V600E, V512E, V578E, V603E, V548E, V566E, V563E, V640E	Colorectal cancer, not provided, See cases, Trametinib-Dabrafenib Response, Vemurafenib-Cobimetinib Response	Pathogenic; drug response; other (Jul 11, 2014)	criteria provided, multiple submitters, no conflicts

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Items: 41