7490[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2641703	NC_000011.10:g.32366241A>G	WT1	Single nucleotide variant	not provided	GBenign
Select item 304370	NM_024426.6(WT1):c.*1239T>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GBenign/Likely benign
Select item 304371	NM_024426.6(WT1):c.*1225T>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
Select item 304372	NM_024426.6(WT1):c.*1209A>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GBenign/Likely benign
Select item 304373	NM_024426.6(WT1):c.*1167T>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
Select item 304374	NM_024426.6(WT1):c.*1132A>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +3 more	GBenign/Likely benign
Select item 304375	NM_024426.6(WT1):c.*1098C>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GBenign/Likely benign
Select item 879412	NM_024426.6(WT1):c.*1066T>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +2 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 304380	NM_024426.6(WT1):c.*1021GT[18]	WT1	Microsatellite (3 prime UTR variant +1 more)	Meacham syndrome +4 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 304381	NM_024426.6(WT1):c.*1021GT[14]	WT1	Microsatellite (3 prime UTR variant +1 more)	Meacham syndrome +4 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 304382	NM_024426.6(WT1):c.*1049del	WT1	Deletion (3 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +2 more	GBenign
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 304384	NM_024426.6(WT1):c.*903G>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GBenign/Likely benign
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 304387	NM_024426.6(WT1):c.*864T>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GBenign/Likely benign
Select item 304386	NM_024426.6(WT1):c.*864T>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GBenign/Likely benign
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 304389	NM_024426.6(WT1):c.*835A>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +3 more	GBenign/Likely benign
Select item 304390	NM_024426.6(WT1):c.*820G>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GBenign
Select item 304391	NM_024426.6(WT1):c.*785C>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 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 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 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 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 304396	NM_024426.6(WT1):c.*666A>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
Select item 878010	NM_024426.6(WT1):c.*629T>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Wilms tumor 1 +2 more	GUncertain significance
Select item 304397	NM_024426.6(WT1):c.*614A>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
Select item 304398	NM_024426.6(WT1):c.*611C>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
Select item 304399	NM_024426.6(WT1):c.*602A>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +3 more	GBenign
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 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 304402	NM_024426.6(WT1):c.*534C>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +3 more	GConflicting classifications of pathogenicity
Select item 304403	NM_024426.6(WT1):c.*513C>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
Select item 304404	NM_024426.6(WT1):c.*460C>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 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 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 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 304408	NM_024426.6(WT1):c.*345G>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GBenign/Likely 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 304410	NM_024426.6(WT1):c.*267G>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +5 more	GBenign
Select item 304411	NM_024426.6(WT1):c.*239G>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
Select item 304412	NM_024426.6(WT1):c.*224A>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Wilms tumor 1 +5 more	GBenign
Select item 304413	NM_024426.6(WT1):c.*159G>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +2 more	GUncertain significance
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 304415	NM_024426.6(WT1):c.*110C>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Wilms tumor 1 +2 more	GUncertain significance
Select item 879521	NM_024426.6(WT1):c.*100A>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +2 more	GUncertain significance
Select item 304416	NM_024426.6(WT1):c.*88A>G	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +5 more	GBenign
Select item 304417	NM_024426.6(WT1):c.*16G>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Meacham syndrome +5 more	GBenign/Likely benign
Select item 877954	NM_024426.6(WT1):c.*12C>T	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 665054	NC_000011.10:g.(?_32389048)_(32435355_?)del	LOC106707172, LOC107982234 +2 more	Deletion	Drash syndrome +3 more	GPathogenic
Select item 654101	NC_000011.9:g.(?_32410594)_(32421600_?)dup	WT1	Duplication	Wilms tumor 1 +3 more	GUncertain significance
Select item 877955	NM_024426.6(WT1):c.*5T>C	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Wilms tumor 1 +2 more	GUncertain significance
Select item 3072683	NM_024426.6(WT1):c.*3G>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Wilms tumor 1	GUncertain significance
Select item 3074942	NM_024426.6(WT1):c.*2G>A	WT1	Single nucleotide variant (3 prime UTR variant +1 more)	Wilms tumor 1	GUncertain significance
Select item 1016525	NM_024426.6(WT1):c.1569A>G (p.Ter523Trp)	WT1	Single nucleotide variant (stop lost +1 more)	Frasier syndrome +3 more	GUncertain significance
Select item 543163	NC_000011.10:g.(?_32389058)_(32435345_?)del	LOC106707172, LOC107982234 +2 more	Deletion	Wilms tumor 1 +3 more	GPathogenic
Select item 515922	NM_024426.6(WT1):c.1568G>A (p.Ter523=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Meacham syndrome +7 more	GConflicting classifications of pathogenicity
Select item 2943564	NM_024426.6(WT1):c.1563G>C (p.Ala521=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +3 more	GLikely benign
Select item 1629754	NM_024426.6(WT1):c.1563G>T (p.Ala521=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Frasier syndrome +3 more	GLikely benign
Select item 414086	NM_024426.6(WT1):c.1563G>A (p.Ala521=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Wilms tumor 1 +3 more	GLikely benign
Select item 666088	NM_024426.6(WT1):c.1562C>T (p.Ala521Val)	WT1 (A125V +14 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +8 more	GUncertain significance
Select item 952350	NM_024426.6(WT1):c.1561G>C (p.Ala521Pro)	WT1 (A125P +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 939929	NM_024426.6(WT1):c.1559T>C (p.Leu520Pro)	WT1 (L517P +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +9 more	GUncertain significance
Select item 1146034	NM_024426.6(WT1):c.1557G>A (p.Gln519=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Frasier syndrome +3 more	GLikely benign
Select item 846725	NM_024426.6(WT1):c.1555C>T (p.Gln519Ter)	WT1 (Q285* +14 more)	Single nucleotide variant (nonsense +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 78334	NM_024426.6(WT1):c.1554C>T (p.Leu518=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +3 more	GLikely benign
Select item 2934756	NM_024426.6(WT1):c.1551A>G (p.Lys517=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +3 more	GLikely benign
Select item 1487769	NM_024426.6(WT1):c.1545G>A (p.Met515Ile)	WT1 (M281I +14 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 2104308	NM_024426.6(WT1):c.1541A>C (p.Asn514Thr)	WT1 (N294T +14 more)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +3 more	GUncertain significance
Select item 584756	NM_024426.6(WT1):c.1541A>G (p.Asn514Ser)	WT1 (N294S +13 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 476692	NM_024426.6(WT1):c.1541A>T (p.Asn514Ile)	WT1 (N294I +13 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 476691	NM_024426.6(WT1):c.1538G>C (p.Arg513Thr)	WT1 (R293T +13 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 1077036	NM_024426.6(WT1):c.1534C>T (p.Gln512Ter)	WT1 (Q116* +14 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 4	GPathogenic
Select item 1009879	NM_024426.6(WT1):c.1529T>A (p.Met510Lys)	WT1 (M114K +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 543128	NM_024426.6(WT1):c.1528A>G (p.Met510Val)	WT1 (M510V +13 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 1500020	NM_024426.6(WT1):c.1526A>T (p.Asn509Ile)	WT1 (N275I +14 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 476690	NM_024426.6(WT1):c.1524C>A (p.His508Gln)	WT1 (H288Q +13 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 2679628	NM_024426.6(WT1):c.1523A>G (p.His508Arg)	WT1 (H112R +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome	GUncertain significance
Select item 2950763	NM_024426.6(WT1):c.1519del (p.His507fs)	WT1 (H111fs +13 more)	Deletion (frameshift variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 2950764	NM_024426.6(WT1):c.1518C>G (p.Arg506=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +3 more	GLikely benign
Select item 971715	NM_024426.6(WT1):c.1517G>T (p.Arg506Leu)	WT1 (R272L +14 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 2169912	NM_024426.6(WT1):c.1516C>T (p.Arg506Cys)	WT1 (R272C +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 476689	NM_024426.6(WT1):c.1515C>A (p.Val505=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +3 more	GLikely benign
Select item 2950079	NM_024426.6(WT1):c.1513G>A (p.Val505Ile)	WT1 (V474I +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 956104	NM_024426.6(WT1):c.1513G>C (p.Val505Leu)	WT1 (V109L +14 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 2084816	NM_024426.6(WT1):c.1510T>G (p.Leu504Val)	WT1 (L456V +14 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 2952581	NM_024426.6(WT1):c.1505A>G (p.Asp502Gly)	WT1 (D106G +14 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 2681780	NM_024426.6(WT1):c.1504G>C (p.Asp502His)	WT1 (D106H +14 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 1143900	NM_024426.6(WT1):c.1500G>C (p.Arg500=)	WT1	Single nucleotide variant (synonymous variant +1 more)	Wilms tumor 1 +3 more	GLikely benign
Select item 3256922	NM_024426.6(WT1):c.1499G>T (p.Arg500Leu)	WT1 (R104L +13 more)	Single nucleotide variant (missense variant +1 more)	WT1-related disorder	GLikely pathogenic
Select item 664113	NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)	WT1 (R480Q +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GPathogenic
Select item 2505271	NM_024426.6(WT1):c.1498C>T (p.Arg500Trp)	WT1 (R104W +14 more)	Single nucleotide variant (missense variant +1 more)	WT1-related disorder	GLikely pathogenic
Select item 1391355	NM_024426.6(WT1):c.1496C>G (p.Ala499Gly)	WT1 (A103G +14 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance

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