"GeneDx"[submitter] AND "LOC107982234"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1265146	NM_024426.6(WT1):c.662-1755A>C	LOC107982234, WT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279947	NM_024426.6(WT1):c.662-1756C>G	LOC107982234, WT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255107	NM_024426.6(WT1):c.662-1785T>G	LOC107982234, WT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219206	NM_024426.6(WT1):c.662-1831CT[8]	LOC107982234, WT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1269780	NM_024426.6(WT1):c.662-1829_662-1828insCC	LOC107982234, WT1	Insertion (intron variant)	not provided	GBenign
Select item 1316101	NM_024426.6(WT1):c.662-1836_662-1835dup	LOC107982234, WT1	Duplication (intron variant)	not provided	GLikely benign
Select item 1208247	NM_024426.6(WT1):c.662-1873_662-1868dup	LOC107982234, WT1	Duplication (intron variant)	not provided	GLikely benign
Select item 257619	NM_024426.6(WT1):c.662-1928_662-1927del	LOC107982234, WT1	Deletion (5 prime UTR variant +1 more)	Wilms tumor 1 +6 more	GBenign
Select item 1291085	NM_024426.6(WT1):c.662-2076del	LOC107982234, WT1	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1182725	NM_024426.6(WT1):c.662-2173G>A	LOC107982234, WT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1186896	NM_024426.6(WT1):c.662-2299A>C	WT1, LOC107982234	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201160	NM_024426.6(WT1):c.662-2310C>T	LOC107982234, WT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268404	NM_024426.6(WT1):c.662-2359C>G	LOC107982234, WT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200816	NM_024426.6(WT1):c.661+161G>T	LOC107982234, WT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194853	NM_024426.6(WT1):c.661+58C>T	LOC107982234, WT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2143668	NM_024426.6(WT1):c.661G>T (p.Gly221Cys)	LOC107982234, WT1 (G221C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 654381	NM_024426.6(WT1):c.658C>A (p.Gln220Lys)	LOC107982234, WT1 (Q220K)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +8 more	GUncertain significance
Select item 935383	NM_024426.6(WT1):c.646G>A (p.Ala216Thr)	LOC107982234, WT1 (A216T)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 2573852	NM_024426.6(WT1):c.636G>C (p.Glu212Asp)	LOC107982234, WT1 (E207D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 261713	NM_024426.6(WT1):c.609C>T (p.Asn203=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Wilms tumor 1 +8 more	GBenign
Select item 951884	NM_024426.6(WT1):c.604C>T (p.Pro202Ser)	LOC107982234, WT1 (P202S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 3073006	NM_024426.6(WT1):c.592G>T (p.Ala198Ser)	LOC107982234, WT1 (A125S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 304423	NM_024426.6(WT1):c.587G>A (p.Gly196Asp)	LOC107982234, WT1 (G196D)	Single nucleotide variant (missense variant +1 more)	Meacham syndrome +6 more	GConflicting classifications of pathogenicity
Select item 582327	NM_024426.6(WT1):c.586G>A (p.Gly196Ser)	LOC107982234, WT1 (G196S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1462549	NM_024426.6(WT1):c.566C>G (p.Pro189Arg)	LOC107982234, WT1 (P189R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 449859	NM_024426.6(WT1):c.543_556del (p.Tyr182fs)	LOC107982234, WT1 (Y182fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1476866	NM_024426.6(WT1):c.535G>A (p.Ala179Thr)	LOC107982234, WT1 (A179T)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +5 more	GUncertain significance
Select item 261712	NM_024426.6(WT1):c.513C>A (p.Gly171=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GBenign/Likely benign
Select item 1804378	NM_024426.6(WT1):c.500T>C (p.Val167Ala)	LOC107982234, WT1 (V162A +1 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 476706	NM_024426.6(WT1):c.475G>A (p.Glu159Lys)	LOC107982234, WT1 (E159K)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 3343946	NM_024426.6(WT1):c.438A>T (p.Lys146Asn)	LOC107982234, WT1 (K141N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343536	NM_024426.6(WT1):c.429C>A (p.Ser143=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 406690	NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)	LOC107982234, WT1	Microsatellite (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 406693	NM_024426.6(WT1):c.421C>T (p.Pro141Ser)	LOC107982234, WT1 (P141S)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +5 more	GConflicting classifications of pathogenicity
Select item 853740	NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup)	LOC107982234, WT1	Duplication (inframe_insertion +1 more)	not provided +4 more	GUncertain significance
Select item 836130	NM_024426.6(WT1):c.409C>G (p.Pro137Ala)	LOC107982234, WT1 (P137A)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +4 more	GUncertain significance
Select item 566443	NM_024426.6(WT1):c.397C>A (p.Pro133Thr)	LOC107982234, WT1 (P133T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2663084	NM_024426.6(WT1):c.384G>A (p.Ala128=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +4 more	GConflicting classifications of pathogenicity
Select item 261711	NM_024426.6(WT1):c.381C>G (p.Pro127=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Meacham syndrome +8 more	GConflicting classifications of pathogenicity
Select item 3370888	NM_024426.6(WT1):c.373G>A (p.Gly125Ser)	LOC107982234, WT1 (G120S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 651615	NM_024426.6(WT1):c.358G>A (p.Ala120Thr)	LOC107982234, WT1 (A120T)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +4 more	GUncertain significance
Select item 193454	NM_024426.6(WT1):c.345C>T (p.Pro115=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GBenign
Select item 406698	NM_024426.6(WT1):c.343C>T (p.Pro115Ser)	LOC107982234, WT1 (P115S)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 2946326	NM_024426.6(WT1):c.332T>C (p.Leu111Pro)	LOC107982234, WT1 (L106P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 952112	NM_024426.6(WT1):c.326C>G (p.Pro109Arg)	LOC107982234, WT1 (P109R)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 950796	NM_024426.6(WT1):c.326C>A (p.Pro109Gln)	LOC107982234, WT1 (P109Q)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 241480	NM_024426.6(WT1):c.309C>A (p.Gly103=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Drash syndrome +7 more	GConflicting classifications of pathogenicity
Select item 2576875	NM_024426.6(WT1):c.305G>C (p.Ser102Thr)	LOC107982234, WT1 (S102T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 861016	NM_024426.6(WT1):c.304A>G (p.Ser102Gly)	LOC107982234, WT1 (S102G)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1359817	NM_024426.6(WT1):c.284G>T (p.Gly95Val)	LOC107982234, WT1 (G95V)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 2935563	NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu)	LOC107982234, WT1 (A83L +1 more)	Indel (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 476696	NM_024426.6(WT1):c.218A>T (p.Gln73Leu)	LOC107982234, WT1 (Q73L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 241479	NM_024426.6(WT1):c.216G>T (p.Gln72His)	LOC107982234, WT1 (Q72H)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +7 more	GBenign/Likely benign
Select item 261710	NM_024426.6(WT1):c.213G>T (p.Pro71=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GBenign
Select item 1474295	NM_024426.6(WT1):c.210G>C (p.Glu70Asp)	LOC107982234, WT1 (E70D)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +4 more	GUncertain significance
Select item 543118	NM_024426.6(WT1):c.203G>A (p.Gly68Glu)	LOC107982234, WT1 (G68E)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +8 more	GUncertain significance
Select item 646844	NM_024426.6(WT1):c.193G>T (p.Gly65Trp)	LOC107982234, WT1 (G65W)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 241478	NM_024426.6(WT1):c.193G>A (p.Gly65Arg)	LOC107982234, WT1 (G65R)	Single nucleotide variant (missense variant +1 more)	Meacham syndrome +9 more	GConflicting classifications of pathogenicity
Select item 3367494	NM_024426.6(WT1):c.190C>G (p.Arg64Gly)	LOC107982234, WT1 (R59G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 241476	NM_024426.6(WT1):c.181C>A (p.Arg61=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 4 +9 more	GBenign/Likely benign
Select item 1809679	NM_024426.6(WT1):c.163G>A (p.Ala55Thr)	WT1, LOC107982234 (A50T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 265295	NM_024426.6(WT1):c.151del (p.Ala51fs)	LOC107982234, WT1 (A51fs)	Deletion (frameshift variant +1 more)	Drash syndrome +5 more	GConflicting classifications of pathogenicity
Select item 476683	NM_024426.6(WT1):c.133T>C (p.Trp45Arg)	LOC107982234, WT1 (W45R)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +4 more	GUncertain significance
Select item 543129	NM_024426.6(WT1):c.124G>A (p.Gly42Ser)	LOC107982234, WT1 (G42S)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +6 more	GConflicting classifications of pathogenicity
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 476676	NM_024426.6(WT1):c.121C>T (p.Pro41Ser)	LOC107982234, WT1 (P41S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2502691	NM_024426.6(WT1):c.114C>G (p.Val38=)	WT1, LOC107982234	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 834425	NM_024426.6(WT1):c.109G>A (p.Gly37Arg)	LOC107982234, WT1 (G37R)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 543133	NM_024426.6(WT1):c.86G>A (p.Cys29Tyr)	LOC107982234, WT1 (C29Y)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +4 more	GUncertain significance
Select item 241487	NM_024426.6(WT1):c.83G>A (p.Gly28Glu)	LOC107982234, WT1 (G28E)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +6 more	GUncertain significance
Select item 543141	NM_024426.6(WT1):c.77G>A (p.Gly26Glu)	LOC107982234, WT1 (G26E)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 839433	NM_024426.6(WT1):c.76G>A (p.Gly26Arg)	LOC107982234, WT1 (G26R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 241484	NM_024426.6(WT1):c.70C>T (p.Arg24Cys)	LOC107982234, WT1 (R24C)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 543119	NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)	LOC107982234, WT1 (A10Y)	Indel (missense variant +1 more)	Drash syndrome +9 more	GUncertain significance
Select item 476686	NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile)	LOC107982234, WT1 (A10I)	Indel (missense variant +1 more)	Drash syndrome +4 more	GUncertain significance
Select item 2155557	NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)	LOC107982234, WT1 (M1G +1 more)	Indel (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 677249	NM_024426.4(WT1):c.-247T>C	LOC107982234, WT1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1217896	NC_000011.10:g.32435840C>A	LOC107982234, WT1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign

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Items: 80