"GeneKor MSA"[submitter] AND "TP53"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215996	NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)	TP53 (R210P +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GPathogenic/Likely pathogenic
Select item 127824	NM_000546.6(TP53):c.847C>T (p.Arg283Cys)	TP53 (R151C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 379336	NM_000546.6(TP53):c.673-1G>A	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome +3 more	GPathogenic
Select item 161397	NM_000546.6(TP53):c.665C>T (p.Pro222Leu)	TP53 (P183L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +7 more	GConflicting classifications of pathogenicity
Select item 230758	NM_000546.6(TP53):c.480G>A (p.Met160Ile)	TP53 (M121I +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 12353	NM_000546.6(TP53):c.469G>T (p.Val157Phe)	TP53 (V157F +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185593	NM_000546.6(TP53):c.376-2dup	TP53	Duplication (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity