C4748488[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 182970	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53 (R210* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +14 more	GPathogenic
Select item 12379	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53 (R337H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +17 more	GPathogenic/Likely pathogenic
Select item 633445	NM_000546.6(TP53):c.869G>T (p.Arg290Leu)	TP53 (R158L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GUncertain significance
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12365	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	TP53 (G245S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 127819	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53 (Y181C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 237950	NM_000546.6(TP53):c.461G>A (p.Gly154Asp)	TP53 (G115D +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 133284	NM_000546.6(TP53):c.460G>A (p.Gly154Ser)	TP53 (G115S +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +15 more	GUncertain significance