C0346153[trait identifier] AND "University Health Network, Princess Ma - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174017	Single allele	APC	Deletion	Familial cancer of breast	GPathogenic
Select item 1052297	NM_000546.6(TP53):c.1118del (p.Lys373fs)	TP53 (K214fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome	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	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 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	GPathogenic FDA Recognized database
Select item 43590	NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Familial cancer of breast +6 more	GPathogenic
Select item 142320	NM_000546.6(TP53):c.542G>A (p.Arg181His)	TP53 (R142H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GConflicting classifications of pathogenicity
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	not provided +15 more	GPathogenic
Select item 55601	NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	BRCA1 (R1835* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1174015	NM_007294.4(BRCA1):c.1195_1196del (p.Ser398_His399insTer)	BRCA1	Microsatellite (nonsense +1 more)	Neoplasm of ovary +1 more	GPathogenic
Select item 128044	NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)	CHEK2 (H371Y +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +10 more	GConflicting classifications of pathogenicity
Select item 479534	NM_007194.4(CHEK2):c.684-1G>A	CHEK2	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic