ClinVar for MedGen (Select 447509) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 2081

<< First< Prev

Page of 21

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24448951.	NM_005762.3(TRIM28):c.161G>T (p.Gly54Val) GRCh37: Chr19:59056285 GRCh38: Chr19:58544918	TRIM28	G54V	Wilms tumor 1	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 24448842.	NM_024426.6(WT1):c.790C>T (p.Gln264Ter) GRCh37: Chr11:32449599 GRCh38: Chr11:32428053	WT1	Q10, Q223, Q259, Q264, Q47*	Wilms tumor 1	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 24448823.	NM_005762.3(TRIM28):c.83G>T (p.Gly28Val) GRCh37: Chr19:59056207 GRCh38: Chr19:58544840	TRIM28	G28V	Wilms tumor 1	Uncertain significance (Mar 2, 2023)	criteria provided, single submitter
Select item 24418484.	NM_024426.6(WT1):c.1207T>G (p.Cys403Gly) GRCh37: Chr11:32417860 GRCh38: Chr11:32396314	WT1	C149G, C169G, C186G, C345G, C362G, C381G, C386G, C398G, C401G, C403G, C7G	Wilms tumor 1	Likely pathogenic (Dec 10, 2022)	criteria provided, single submitter
Select item 24268245.	NC_000011.9:g.(?_32410604)_(32460464_?)del GRCh37: Chr11:32410604-32460464	WT1-AS, WT1		Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome	Pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 24268236.	NC_000011.9:g.(?_32410604)_(32410745_?)dup GRCh37: Chr11:32410604-32410745	WT1		Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 24251347.	NC_000023.10:g.(?_132730458)_(133119476_?)dup GRCh37: ChrX:132730458-133119476	GPC3		Wilms tumor 1	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 24251338.	NC_000023.10:g.(?_132795748)_(133119476_?)dup GRCh37: ChrX:132795748-133119476	GPC3		Wilms tumor 1	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 24251329.	NC_000023.10:g.(?_133119292)_(133119476_?)dup GRCh37: ChrX:133119292-133119476	GPC3		Wilms tumor 1	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 242513110.	NC_000023.10:g.(?_132670152)_(132730637_?)del GRCh37: ChrX:132670152-132730637	GPC3		Wilms tumor 1	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 242513011.	NC_000023.10:g.(?_132670152)_(132795898_?)del GRCh37: ChrX:132670152-132795898	GPC3		Wilms tumor 1	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 242512912.	NC_000023.10:g.(?_132795748)_(132834066_?)del GRCh37: ChrX:132795748-132834066	GPC3		Wilms tumor 1	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 242512813.	NC_000023.10:g.(?_132670152)_(132826532_?)dup GRCh37: ChrX:132670152-132826532	GPC3		Wilms tumor 1	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 242512714.	NC_000023.10:g.(?_133119282)_(133119476_?)del GRCh37: ChrX:133119282-133119476	GPC3		Wilms tumor 1	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 241895715.	NM_024426.6(WT1):c.868C>T (p.Leu290=) GRCh37: Chr11:32449521 GRCh38: Chr11:32427975	WT1		Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 241890916.	NM_004484.4(GPC3):c.1523G>T (p.Gly508Val) GRCh37: ChrX:132730518 GRCh38: ChrX:133596490	GPC3	G454V, G492V, G508V, G531V	Wilms tumor 1	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 241832517.	NM_024426.6(WT1):c.40G>C (p.Val14Leu) GRCh37: Chr11:32456867 GRCh38: Chr11:32435321	LOC107982234, WT1	V14L, V9L	Drash syndrome, Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 241830918.	NM_004484.4(GPC3):c.175+11G>A GRCh37: ChrX:133119291 GRCh38: ChrX:133985264	GPC3		Wilms tumor 1	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 241624219.	NM_024426.6(WT1):c.652C>T (p.Arg218Cys) GRCh37: Chr11:32456255 GRCh38: Chr11:32434709	LOC107982234, WT1	R213C, R218C	Drash syndrome, Wilms tumor 1, Frasier syndrome, 11p partial monosomy syndrome	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 241552620.	NM_004484.4(GPC3):c.1676A>G (p.His559Arg) GRCh37: ChrX:132670219 GRCh38: ChrX:133536191	GPC3	H505R, H543R, H559R, H582R	Wilms tumor 1	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 241546221.	NM_024426.6(WT1):c.1017-20T>C GRCh37: Chr11:32421610 GRCh38: Chr11:32400064	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 241473122.	NM_024426.6(WT1):c.888-6T>C GRCh37: Chr11:32439206 GRCh38: Chr11:32417660	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 220350923.	NM_024426.6(WT1):c.1355-19A>T GRCh37: Chr11:32413629 GRCh38: Chr11:32392083	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220266624.	NM_024426.6(WT1):c.116G>C (p.Arg39Pro) GRCh37: Chr11:32456791 GRCh38: Chr11:32435245	LOC107982234, WT1	R34P, R39P	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 220186625.	NM_024426.6(WT1):c.662-7C>T GRCh37: Chr11:32450172 GRCh38: Chr11:32428626	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 220108026.	NM_024426.6(WT1):c.801G>A (p.Ser267=) GRCh37: Chr11:32449588 GRCh38: Chr11:32428042	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 220070827.	NM_024426.6(WT1):c.1114G>C (p.Asp372His) GRCh37: Chr11:32417953 GRCh38: Chr11:32396407	WT1	D155H, D314H, D350H, D370H, D331H, D118H, D355H, D372H, D138H, D367H	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 219967528.	NM_024426.6(WT1):c.306C>A (p.Ser102Arg) GRCh37: Chr11:32456601 GRCh38: Chr11:32435055	LOC107982234, WT1	S102R, S97R	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 219943629.	NM_024426.6(WT1):c.1114-14C>T GRCh37: Chr11:32417967 GRCh38: Chr11:32396421	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219908830.	NM_004484.4(GPC3):c.176G>A (p.Gly59Glu) GRCh37: ChrX:133087238 GRCh38: ChrX:133953211	GPC3	G59E	Wilms tumor 1	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 219904431.	NM_024426.6(WT1):c.690G>T (p.Thr230=) GRCh37: Chr11:32450137 GRCh38: Chr11:32428591	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 219883032.	NM_024426.6(WT1):c.408C>A (p.Pro136=) GRCh37: Chr11:32456499 GRCh38: Chr11:32434953	LOC107982234, WT1		Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 219880733.	NM_004484.4(GPC3):c.184T>C (p.Leu62=) GRCh37: ChrX:133087230 GRCh38: ChrX:133953203	GPC3		Wilms tumor 1	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 219835534.	NM_024426.6(WT1):c.1088C>A (p.Thr363Lys) GRCh37: Chr11:32421519 GRCh38: Chr11:32399973	WT1	T341K, T346K, T361K, T358K, T363K, T109K, T129K, T146K, T305K, T322K	Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 219799035.	NM_024426.6(WT1):c.981C>T (p.Ser327=) GRCh37: Chr11:32438071 GRCh38: Chr11:32416525	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 219557836.	NM_004484.4(GPC3):c.801A>T (p.Gly267=) GRCh37: ChrX:132887740 GRCh38: ChrX:133753713	GPC3		Wilms tumor 1	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 219385837.	NM_004484.4(GPC3):c.651C>T (p.Thr217=) GRCh37: ChrX:132887890 GRCh38: ChrX:133753863	GPC3		Wilms tumor 1	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 219342438.	NM_024426.6(WT1):c.661+12G>A GRCh37: Chr11:32456234 GRCh38: Chr11:32434688	LOC107982234, WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 219341339.	NM_004484.4(GPC3):c.1617T>A (p.Ser539Arg) GRCh37: ChrX:132670278 GRCh38: ChrX:133536250	GPC3	S562R, S523R, S539R, S485R	Wilms tumor 1	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 219201140.	NM_024426.6(WT1):c.414G>A (p.Pro138=) GRCh37: Chr11:32456493 GRCh38: Chr11:32434947	LOC107982234, WT1		Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 219113441.	NM_004484.4(GPC3):c.839T>C (p.Val280Ala) GRCh37: ChrX:132887702 GRCh38: ChrX:133753675	GPC3	V226A, V280A, V264A	Wilms tumor 1	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 218950642.	NM_024426.6(WT1):c.1262C>G (p.Thr421Ser) GRCh37: Chr11:32417805 GRCh38: Chr11:32396259	WT1	T25S, T399S, T404S, T380S, T421S, T187S, T363S, T416S, T419S, T167S, T204S	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 218922043.	NM_024426.6(WT1):c.1202C>A (p.Pro401Gln) GRCh37: Chr11:32417865 GRCh38: Chr11:32396319	WT1	P184Q, P343Q, P5Q, P147Q, P384Q, P167Q, P360Q, P396Q, P379Q, P399Q, P401Q	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 218822644.	NM_024426.6(WT1):c.112G>A (p.Val38Ile) GRCh37: Chr11:32456795 GRCh38: Chr11:32435249	LOC107982234, WT1	V38I, V33I	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 218701745.	NM_004484.4(GPC3):c.513T>G (p.Phe171Leu) GRCh37: ChrX:132888028 GRCh38: ChrX:133754001	GPC3	F171L, F155L, F117L	Wilms tumor 1	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 218697646.	NM_024426.6(WT1):c.1355-24_1355-20del GRCh37: Chr11:32413630-32413634 GRCh38: Chr11:32392084-32392088	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 218571947.	NM_004484.4(GPC3):c.1519G>C (p.Gly507Arg) GRCh37: ChrX:132730522 GRCh38: ChrX:133596494	GPC3	G507R, G530R, G453R, G491R	Wilms tumor 1	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 218570648.	NM_024426.6(WT1):c.1093G>A (p.Gly365Ser) GRCh37: Chr11:32421514 GRCh38: Chr11:32399968	WT1	G324S, G343S, G363S, G365S, G360S, G111S, G131S, G148S, G307S, G348S	Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 218556349.	NM_004484.4(GPC3):c.976A>T (p.Thr326Ser) GRCh37: ChrX:132887565 GRCh38: ChrX:133753538	GPC3	T326S, T272S, T310S	Wilms tumor 1	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 218458150.	NM_024426.6(WT1):c.645C>A (p.Pro215=) GRCh37: Chr11:32456262 GRCh38: Chr11:32434716	LOC107982234, WT1		Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 218438451.	NM_024426.6(WT1):c.639C>A (p.Ser213Arg) GRCh37: Chr11:32456268 GRCh38: Chr11:32434722	LOC107982234, WT1	S208R, S213R	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 218334352.	NM_024426.6(WT1):c.825C>T (p.Cys275=) GRCh37: Chr11:32449564 GRCh38: Chr11:32428018	WT1		Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 218268153.	NM_024426.6(WT1):c.392C>T (p.Pro131Leu) GRCh37: Chr11:32456515 GRCh38: Chr11:32434969	LOC107982234, WT1	P126L, P131L	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 218251054.	NM_024426.6(WT1):c.1458C>T (p.Pro486=) GRCh37: Chr11:32410715 GRCh38: Chr11:32389169	WT1		Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 218070355.	NM_004484.4(GPC3):c.227A>G (p.Lys76Arg) GRCh37: ChrX:133087187 GRCh38: ChrX:133953160	GPC3	K76R	Wilms tumor 1	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 217924256.	NM_024426.6(WT1):c.303G>A (p.Val101=) GRCh37: Chr11:32456604 GRCh38: Chr11:32435058	LOC107982234, WT1		Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 217856957.	NM_004484.4(GPC3):c.460C>G (p.Leu154Val) GRCh37: ChrX:132888081 GRCh38: ChrX:133754054	GPC3	L138V, L154V, L100V	Wilms tumor 1	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 217795358.	NM_024426.6(WT1):c.261C>A (p.Ala87=) GRCh37: Chr11:32456646 GRCh38: Chr11:32435100	LOC107982234, WT1		Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 217694359.	NM_024426.6(WT1):c.295C>G (p.Leu99Val) GRCh37: Chr11:32456612 GRCh38: Chr11:32435066	LOC107982234, WT1	L94V, L99V	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 217607060.	NM_004484.4(GPC3):c.17G>T (p.Arg6Leu) GRCh37: ChrX:133119460 GRCh38: ChrX:133985433	GPC3	R6L	Wilms tumor 1	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 217600261.	NM_024426.6(WT1):c.662G>T (p.Gly221Val) GRCh37: Chr11:32450165 GRCh38: Chr11:32428619	WT1	G216V, G221V, G4V	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 217580162.	NM_024426.6(WT1):c.774G>A (p.Gln258=) GRCh37: Chr11:32450053 GRCh38: Chr11:32428507	WT1		Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 217576863.	NM_024426.6(WT1):c.1113+14C>T GRCh37: Chr11:32421480 GRCh38: Chr11:32399934	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 217330264.	NM_024426.6(WT1):c.1017C>G (p.Asn339Lys) GRCh37: Chr11:32421590 GRCh38: Chr11:32400044	WT1	N122K, N339K, N298K, N85K, N334K	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 217208165.	NM_024426.6(WT1):c.416C>A (p.Pro139Gln) GRCh37: Chr11:32456491 GRCh38: Chr11:32434945	LOC107982234, WT1	P134Q, P139Q	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 217058166.	NM_024426.6(WT1):c.1113+9A>C GRCh37: Chr11:32421485 GRCh38: Chr11:32399939	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 216991267.	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	Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216764768.	NM_004484.4(GPC3):c.1033-17T>A GRCh37: ChrX:132834073 GRCh38: ChrX:133700045	GPC3		Wilms tumor 1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 216603769.	NM_024426.6(WT1):c.197C>T (p.Ala66Val) GRCh37: Chr11:32456710 GRCh38: Chr11:32435164	LOC107982234, WT1	A61V, A66V	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 216355070.	NM_024426.6(WT1):c.166G>C (p.Glu56Gln) GRCh37: Chr11:32456741 GRCh38: Chr11:32435195	LOC107982234, WT1	E56Q, E51Q	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 216342671.	NM_024426.6(WT1):c.441G>A (p.Gln147=) GRCh37: Chr11:32456466 GRCh38: Chr11:32434920	LOC107982234, WT1		Frasier syndrome, Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 216305572.	NM_004484.4(GPC3):c.176-14C>T GRCh37: ChrX:133087252 GRCh38: ChrX:133953225	GPC3		Wilms tumor 1	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 216117373.	NM_004484.4(GPC3):c.166C>T (p.Pro56Ser) GRCh37: ChrX:133119311 GRCh38: ChrX:133985284	GPC3	P56S	Wilms tumor 1	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 216018774.	NM_004484.4(GPC3):c.462C>T (p.Leu154=) GRCh37: ChrX:132888079 GRCh38: ChrX:133754052	GPC3		Wilms tumor 1	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 215998075.	NM_024426.6(WT1):c.1355-6_1355-5del GRCh37: Chr11:32413615-32413616 GRCh38: Chr11:32392069-32392070	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 215845176.	NM_024426.6(WT1):c.785-15C>T GRCh37: Chr11:32449619 GRCh38: Chr11:32428073	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 215845077.	NM_024426.6(WT1):c.997T>C (p.Trp333Arg) GRCh37: Chr11:32438055 GRCh38: Chr11:32416509	WT1	W116R, W292R, W333R, W328R, W79R	Wilms tumor 1, Drash syndrome, 11p partial monosomy syndrome, Frasier syndrome	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 215647478.	NM_024426.6(WT1):c.1114-7C>G GRCh37: Chr11:32417960 GRCh38: Chr11:32396414	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 215635579.	NM_004484.4(GPC3):c.1700G>C (p.Ser567Thr) GRCh37: ChrX:132670195 GRCh38: ChrX:133536167	GPC3	S567T, S513T, S551T, S590T	Wilms tumor 1	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 215601680.	NM_004484.4(GPC3):c.914A>C (p.Glu305Ala) GRCh37: ChrX:132887627 GRCh38: ChrX:133753600	GPC3	E251A, E289A, E305A	Wilms tumor 1	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 215588781.	NM_024426.6(WT1):c.541C>G (p.Arg181Gly) GRCh37: Chr11:32456366 GRCh38: Chr11:32434820	LOC107982234, WT1	R176G, R181G	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 215585982.	NM_024426.6(WT1):c.1320A>G (p.Ser440=) GRCh37: Chr11:32414246 GRCh38: Chr11:32392700	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome, Frasier syndrome	Likely benign (Jan 24, 2022)	criteria provided, single submitter
Select item 215555783.	NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly) GRCh37: Chr11:32456890-32456891 GRCh38: Chr11:32435344-32435345	LOC107982234, WT1	M1G, L6G	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 215394484.	NM_004484.4(GPC3):c.1168G>A (p.Glu390Lys) GRCh37: ChrX:132826521 GRCh38: ChrX:133692493	GPC3	E374K, E390K, E336K, E413K	Wilms tumor 1	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 215377285.	NM_004484.4(GPC3):c.1712C>T (p.Ser571Leu) GRCh37: ChrX:132670183 GRCh38: ChrX:133536155	GPC3	S517L, S555L, S594L, S571L	Wilms tumor 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 215171786.	NM_024426.6(WT1):c.1052C>A (p.Thr351Lys) GRCh37: Chr11:32421555 GRCh38: Chr11:32400009	WT1	T134K, T117K, T310K, T334K, T97K, T293K, T346K, T349K, T329K, T351K	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 215159587.	NM_004484.4(GPC3):c.682A>G (p.Ile228Val) GRCh37: ChrX:132887859 GRCh38: ChrX:133753832	GPC3	I174V, I228V, I212V	Wilms tumor 1	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 215152088.	NM_024426.6(WT1):c.887+20T>C GRCh37: Chr11:32449482 GRCh38: Chr11:32427936	WT1		Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 215138789.	NM_024426.6(WT1):c.928A>C (p.Thr310Pro) GRCh37: Chr11:32439160 GRCh38: Chr11:32417614	WT1	T305P, T310P, T56P, T269P, T93P	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 214887090.	NM_024426.6(WT1):c.413C>T (p.Pro138Leu) GRCh37: Chr11:32456494 GRCh38: Chr11:32434948	LOC107982234, WT1	P133L, P138L	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 214820091.	NM_004484.4(GPC3):c.1742G>T (p.Ter581Leu) GRCh37: ChrX:132670153 GRCh38: ChrX:133536125	GPC3		Wilms tumor 1	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 214674892.	NM_024426.6(WT1):c.483C>T (p.Cys161=) GRCh37: Chr11:32456424 GRCh38: Chr11:32434878	LOC107982234, WT1		Wilms tumor 1, Drash syndrome, Frasier syndrome, 11p partial monosomy syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 214621393.	NM_004484.4(GPC3):c.12C>T (p.Thr4=) GRCh37: ChrX:133119465 GRCh38: ChrX:133985438	GPC3		Wilms tumor 1	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 214558494.	NM_024426.6(WT1):c.544T>C (p.Tyr182His) GRCh37: Chr11:32456363 GRCh38: Chr11:32434817	LOC107982234, WT1	Y182H, Y177H	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 214515395.	NM_024426.6(WT1):c.1219T>C (p.Tyr407His) GRCh37: Chr11:32417848 GRCh38: Chr11:32396302	WT1	Y385H, Y407H, Y153H, Y349H, Y366H, Y405H, Y190H, Y390H, Y402H, Y11H, Y173H	Drash syndrome, Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 214471696.	NM_004484.4(GPC3):c.786C>T (p.Cys262=) GRCh37: ChrX:132887755 GRCh38: ChrX:133753728	GPC3		Wilms tumor 1	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 214438497.	NM_004484.4(GPC3):c.1012G>A (p.Ala338Thr) GRCh37: ChrX:132887529 GRCh38: ChrX:133753502	GPC3	A338T, A284T, A322T	Wilms tumor 1	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 214366898.	NM_024426.6(WT1):c.661G>T (p.Gly221Cys) GRCh37: Chr11:32456246 GRCh38: Chr11:32434700	LOC107982234, WT1	G221C, G216C	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 214257899.	NM_004484.4(GPC3):c.1361G>A (p.Gly454Asp) GRCh37: ChrX:132795810 GRCh38: ChrX:133661782	GPC3	G400D, G454D, G438D, G477D	Wilms tumor 1	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 2141957100.	NM_024426.6(WT1):c.661G>A (p.Gly221Ser) GRCh37: Chr11:32456246 GRCh38: Chr11:32434700	LOC107982234, WT1	G221S, G216S	Wilms tumor 1, 11p partial monosomy syndrome, Frasier syndrome, Drash syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter

<< First< Prev

Page of 21