CN033288[trait identifier] AND "St. Jude Molecular Pathology, St. Jude - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449416	NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)	WT1 (R157* +8 more)	Single nucleotide variant (nonsense +2 more)	Wilms tumor 1 +7 more	GPathogenic
Select item 1327577	NM_024426.6(WT1):c.834dup (p.Thr279fs)	WT1 (T279fs +1 more)	Duplication (frameshift variant +1 more)	Wilms tumor 1	GPathogenic
Select item 2444884	NM_024426.6(WT1):c.790C>T (p.Gln264Ter)	WT1 (Q10* +4 more)	Single nucleotide variant (nonsense +1 more)	Wilms tumor 1	GUncertain significance
Select item 581447	NM_024426.6(WT1):c.736A>G (p.Asn246Asp)	WT1 (N246D +1 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 2577898	NM_024426.6(WT1):c.716_722del (p.His239fs)	WT1 (H22fs +1 more)	Deletion (frameshift variant +3 more)	Wilms tumor 1	GPathogenic
Select item 406690	NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)	LOC107982234, WT1	Microsatellite (inframe_insertion +1 more)	Nephroblastoma +6 more	GUncertain significance
Select item 1040248	NM_024426.6(WT1):c.154G>A (p.Glu52Lys)	LOC107982234, WT1 (E52K)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 265295	NM_024426.6(WT1):c.151del (p.Ala51fs)	LOC107982234, WT1 (A51fs)	Deletion (frameshift variant +1 more)	Drash syndrome +6 more	GConflicting classifications of pathogenicity
Select item 543129	NM_024426.6(WT1):c.124G>A (p.Gly42Ser)	LOC107982234, WT1 (G42S)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4 +6 more	GConflicting classifications of pathogenicity
Select item 1710951	NM_024426.6(WT1):c.70C>G (p.Arg24Gly)	LOC107982234, WT1 (R19G +1 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +1 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)	Frasier syndrome +4 more	GUncertain significance
Select item 37754	NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51192	NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)	BRCA2 (D596H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37936	NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	BRCA2 (Y1655*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96828	NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)	BRCA2 (H1916R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +11 more	GConflicting classifications of pathogenicity
Select item 52256	NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)	BRCA2 (A2351T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +12 more	GConflicting classifications of pathogenicity
Select item 231555	NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)	BRCA2 (E2476del)	Microsatellite (inframe_deletion)	Wilms tumor 1 +11 more	GConflicting classifications of pathogenicity
Select item 2444882	NM_005762.3(TRIM28):c.83G>T (p.Gly28Val)	LOC130065239, TRIM28 (G28V)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 2444895	NM_005762.3(TRIM28):c.161G>T (p.Gly54Val)	LOC130065239, TRIM28 (G54V)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1320297	NM_005762.3(TRIM28):c.380A>G (p.Lys127Arg)	TRIM28 (K127R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2577908	NM_005762.3(TRIM28):c.1101+8_1101+9dup	TRIM28	Duplication (intron variant)	Wilms tumor 1	GUncertain significance
Select item 2465010	NM_005762.3(TRIM28):c.1610C>T (p.Ala537Val)	TRIM28 (A537V)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 2577895	NM_005762.3(TRIM28):c.2060C>G (p.Ala687Gly)	TRIM28 (A687G)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2219929	NM_005762.3(TRIM28):c.2300G>A (p.Arg767His)	TRIM28 (R767H)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 1710941	NM_005762.3(TRIM28):c.2394G>T (p.Glu798Asp)	TRIM28 (E798D)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance

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Items: 25