ClinVar for MedGen (Select 10221) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062359	NM_024426.6(WT1):c.1032C>G (p.Tyr344Ter)	WT1 (Y110* +9 more)	Single nucleotide variant (nonsense +2 more)	Nephroblastoma	GPathogenic
Select item 973190	NM_005762.3(TRIM28):c.2101C>T (p.Gln701Ter)	TRIM28 (Q701*)	Single nucleotide variant (nonsense)	Nephroblastoma	GPathogenic
Select item 438791	NM_001127208.3(TET2):c.4456T>C (p.Ser1486Pro)	TET2, TET2-AS1 (S1486P)	Single nucleotide variant (missense variant)	Nephroblastoma	Gother
Select item 438774	NM_152383.5(DIS3L2):c.2381_2382del (p.Arg794fs)	DIS3L2 (R794fs)	Microsatellite (frameshift variant +2 more)	Nephroblastoma	GLikely pathogenic
Select item 438773	NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs)	CHEK2 (T338fs +4 more)	Deletion (frameshift variant)	Nephroblastoma	GPathogenic
Select item 438765	NM_003506.4(FZD6):c.346C>T (p.Arg116Ter)	FZD6 (R116* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 438758	NM_001904.4(CTNNB1):c.770C>T (p.Thr257Ile)	CTNNB1 (T257I +1 more)	Single nucleotide variant (missense variant)	Nephroblastoma	Gother
Select item 406690	NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)	LOC107982234, WT1	Microsatellite (inframe_insertion +1 more)	Wilms tumor 1 +6 more	GUncertain significance
Select item 304436	NM_024426.6(WT1):c.-94G>C	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304435	NM_024426.6(WT1):c.-90T>C	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +3 more	GUncertain significance
Select item 304434	NM_024426.6(WT1):c.-86T>C	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304433	NM_024426.6(WT1):c.-82A>C	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304431	NM_024426.6(WT1):c.-31G>T	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304430	NM_024426.6(WT1):c.136G>T (p.Ala46Ser)	LOC107982234, WT1 (A46S)	Single nucleotide variant (missense variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304427	NM_024426.6(WT1):c.247G>T (p.Ala83Ser)	LOC107982234, WT1 (A83S)	Single nucleotide variant (missense variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304426	NM_024426.6(WT1):c.285C>T (p.Gly95=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304418	NM_024426.6(WT1):c.1200C>T (p.Tyr400=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +6 more	GConflicting classifications of pathogenicity
Select item 304414	NM_024426.6(WT1):c.*138G>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephroblastoma +3 more	GLikely benign
Select item 304409	NM_024426.6(WT1):c.*269G>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304407	NM_024426.6(WT1):c.*354G>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304406	NM_024426.6(WT1):c.*366C>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304405	NM_024426.6(WT1):c.*393G>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +3 more	GUncertain significance
Select item 304401	NM_024426.6(WT1):c.*542G>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephroblastoma +3 more	GLikely benign
Select item 304400	NM_024426.6(WT1):c.*574del	WT1	Deletion (3 prime UTR variant +1 more)	Meacham syndrome +3 more	GUncertain significance
Select item 304395	NM_024426.6(WT1):c.*685G>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +3 more	GUncertain significance
Select item 304394	NM_024426.6(WT1):c.*707C>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +3 more	GUncertain significance
Select item 304393	NM_024426.6(WT1):c.*741G>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304392	NM_024426.6(WT1):c.*768A>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304388	NM_024426.6(WT1):c.*841C>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304385	NM_024426.6(WT1):c.*897G>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephroblastoma +3 more	GLikely benign
Select item 304383	NM_024426.6(WT1):c.*978dup	WT1	Duplication (3 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +2 more	GBenign
Select item 304382	NM_024426.6(WT1):c.*1049del	WT1	Deletion (3 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +2 more	GBenign
Select item 304381	NM_024426.6(WT1):c.*1021GT[14]	WT1	Microsatellite (3 prime UTR variant +1 more)	Nephroblastoma +3 more	GUncertain significance
Select item 304380	NM_024426.6(WT1):c.*1021GT[18]	WT1	Microsatellite (3 prime UTR variant +1 more)	Nephroblastoma +3 more	GUncertain significance
Select item 304379	NM_024426.6(WT1):c.*1021GT[15]	WT1	Microsatellite (3 prime UTR variant +1 more)	Meacham syndrome +3 more	GUncertain significance
Select item 304378	NM_024426.6(WT1):c.*1021GT[20]	WT1	Microsatellite (3 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304377	NM_024426.6(WT1):c.*1021GT[19]	WT1	Microsatellite (3 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 304376	NM_024426.6(WT1):c.*1058G>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	11p partial monosomy syndrome +3 more	GUncertain significance
Select item 261713	NM_024426.6(WT1):c.609C>T (p.Asn203=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	WT1-related condition +9 more	GBenign
Select item 261710	NM_024426.6(WT1):c.213G>T (p.Pro71=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GBenign
Select item 261708	NM_024426.6(WT1):c.1074A>G (p.Gln358=)	WT1	Single nucleotide variant (synonymous variant +2 more)	not provided +9 more	GBenign
Select item 241476	NM_024426.6(WT1):c.181C>A (p.Arg61=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	not provided +9 more	GBenign/Likely benign
Select item 241475	NM_024426.6(WT1):c.1114-9T>C	WT1	Single nucleotide variant (intron variant)	Frasier syndrome +10 more	GBenign/Likely benign
Select item 198591	NM_024426.6(WT1):c.1122A>G (p.Arg374=)	WT1	Single nucleotide variant (synonymous variant +2 more)	Nephrotic syndrome, type 4 +8 more	GBenign
Select item 193454	NM_024426.6(WT1):c.345C>T (p.Pro115=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +8 more	GBenign
Select item 193453	NM_024426.6(WT1):c.123G>C (p.Pro41=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Wilms tumor 1 +9 more	GBenign/Likely benign
Select item 184326	NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu)	SMAD4 (P292L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 135453	NM_024426.6(WT1):c.760C>T (p.Pro254Ser)	WT1 (P37S +1 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +11 more	GConflicting classifications of pathogenicity
Select item 92220	NM_005120.3(MED12):c.131G>A (p.Gly44Asp)	MED12 (G44D)	Single nucleotide variant (missense variant)	Nephroblastoma	Gother
Select item 17588	NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)	LOC126806658, CTNNB1 (S45F +1 more)	Single nucleotide variant (missense variant)	Adrenal cortex carcinoma +11 more	GPathogenic/Likely pathogenic; other
Select item 17576	NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)	CTNNB1, LOC126806658 (S45del +1 more)	Deletion (inframe_deletion)	Nephroblastoma +1 more	GPathogenic; other
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Vascular malformation +3 more	GPathogenic STier I - Strong

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Items: 52