"Genetics Program, Instituto Nacional de Cancer"[submitter] AND "TP53" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 93325	NM_000546.6(TP53):c.993+12T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +6 more	GBenign/Likely benign
Select item 142144	NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic OOncogenic
Select item 43591	NM_000546.6(TP53):c.639A>G (p.Arg213=)	TP53	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 575702	NM_000546.6(TP53):c.534C>A (p.His178Gln)	TP53 (H46Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 12351	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	TP53 (P72R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +17 more	GBenign OBenign
Select item 43588	NM_000546.6(TP53):c.139C>T (p.Pro47Ser)	TP53 (P47S +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 132708	NM_000546.6(TP53):c.108G>A (p.Pro36=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +5 more	GBenign
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +17 more	GBenign/Likely benign