C1835398[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 487000	NM_000546.6(TP53):c.994-2A>G	TP53	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	Astrocytoma, anaplastic +8 more	GPathogenic/Likely pathogenic
Select item 43594	NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	TP53 (R141C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 12354	NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)	TP53 (C242Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 12353	NM_000546.6(TP53):c.469G>T (p.Val157Phe)	TP53 (V157F +2 more)	Single nucleotide variant (missense variant +1 more)	Squamous cell carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 2585521	NM_000546.6(TP53):c.459del (p.Gly154fs)	TP53 (G115fs +2 more)	Deletion (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 458535	NM_000546.6(TP53):c.322G>C (p.Gly108Arg)	TP53 (G108R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance

ClinVar