C0017636[trait identifier] AND "St. Jude Molecular Pathology, St. Jude - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590849	NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs)	MSH2 (N653fs +1 more)	Deletion (frameshift variant)	Glioblastoma	GPathogenic
Select item 555284	NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)	ATM, C11orf65 (W2845*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
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 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 12347	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	TP53 (R248W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic 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 135359	NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	TP53 (R174Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GPathogenic

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