"Ambry Genetics"[submitter] AND "WT1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +8 more	GUncertain significance
Select item 2559131	NM_024426.6(WT1):c.1440T>C (p.Gly480=)	WT1	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 304419	NM_024426.6(WT1):c.1198T>C (p.Tyr400His)	WT1 (Y183H +9 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4 +6 more	GConflicting classifications of pathogenicity
Select item 2624240	NM_024426.6(WT1):c.1142C>A (p.Pro381Gln)	WT1 (P147Q +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 646456	NM_024426.6(WT1):c.1123C>T (p.Arg375Cys)	WT1 (R141C +9 more)	Single nucleotide variant (missense variant +2 more)	Frasier syndrome +5 more	GUncertain significance
Select item 449416	NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)	WT1 (R157* +8 more)	Single nucleotide variant (nonsense +2 more)	WT1-related Wilms tumor +7 more	GPathogenic
Select item 2277025	NM_024426.6(WT1):c.1109T>C (p.Ile370Thr)	WT1 (I136T +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 696961	NM_024426.6(WT1):c.569C>T (p.Pro190Leu)	LOC107982234, WT1 (P190L)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1983004	NM_024426.6(WT1):c.406C>T (p.Pro136Ser)	LOC107982234, WT1 (P131S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2406757	NM_024426.6(WT1):c.367T>G (p.Ser123Ala)	LOC107982234, WT1 (S118A +1 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +1 more	GUncertain significance
Select item 543122	NM_024426.6(WT1):c.346C>A (p.Pro116Thr)	LOC107982234, WT1 (P116T)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +4 more	GUncertain significance
Select item 2299470	NM_024426.6(WT1):c.313G>A (p.Ala105Thr)	LOC107982234, WT1 (A105T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 476696	NM_024426.6(WT1):c.218A>T (p.Gln73Leu)	LOC107982234, WT1 (Q73L)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +10 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)	Frasier syndrome +9 more	GConflicting classifications of pathogenicity
Select item 2241588	NM_024426.6(WT1):c.164C>T (p.Ala55Val)	LOC107982234, WT1 (A50V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 304429	NM_024426.6(WT1):c.162C>G (p.Ser54Arg)	LOC107982234, WT1 (S54R)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4 +6 more	GUncertain significance