C0346153[trait identifier] AND "Laboratory of Translational Genomics, - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132954	NM_006218.4(PIK3CA):c.1571G>A (p.Arg524Lys)	PIK3CA (R524K)	Single nucleotide variant (missense variant)	Familial cancer of breast	Gnot provided
Select item 132955	NM_006218.4(PIK3CA):c.1664G>A (p.Arg555Lys)	PIK3CA (R555K)	Single nucleotide variant (missense variant)	Familial cancer of breast	Gnot provided
Select item 132956	NM_006218.4(PIK3CA):c.1664+18G>A	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 132965	NM_006218.4(PIK3CA):c.1769G>A (p.Trp590Ter)	PIK3CA (W590*)	Single nucleotide variant (nonsense)	Familial cancer of breast	Gnot provided
Select item 132950	NM_005228.5(EGFR):c.2602G>A (p.Glu868Lys)	EGFR (E868K +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	Gnot provided
Select item 132961	NM_001002295.2(GATA3):c.1032C>T (p.Leu344=)	GATA3	Single nucleotide variant (synonymous variant)	Familial cancer of breast	Gnot provided
Select item 132969	NM_033360.4(KRAS):c.176C>T (p.Ala59Val)	KRAS (A59V)	Single nucleotide variant (missense variant)	Familial cancer of breast	Gnot provided
Select item 133284	NM_000546.6(TP53):c.460G>A (p.Gly154Ser)	TP53 (G115S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +16 more	GUncertain significance
Select item 133281	NM_000546.6(TP53):c.414del (p.Lys139fs)	TP53 (K139fs +2 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	Gnot provided
Select item 133280	NM_000546.6(TP53):c.386C>T (p.Ala129Val)	TP53 (A129V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	Gnot provided
Select item 132944	NM_004448.4(ERBB2):c.2494-3C>T	ERBB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 132946	NM_004448.4(ERBB2):c.2520G>A (p.Arg840=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	Gnot provided
Select item 133279	NM_004448.4(ERBB2):c.2535C>T (p.Asp845=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	Gnot provided
Select item 132947	NM_004448.4(ERBB2):c.2568C>T (p.Pro856=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	Gnot provided
Select item 132963	NM_004448.4(ERBB2):c.3146G>A (p.Ser1049Asn)	ERBB2 (S1019N +21 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	Gnot provided
Select item 132962	NM_001002295.1:c.1482-5C>T	GATA3	Single nucleotide variant	Familial cancer of breast	Gnot provided