"Laboratory of Translational Genomics, National Cancer Institute"[subm - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132974	NM_000546.6(TP53):c.969G>A (p.Leu323=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 132973	NM_000546.6(TP53):c.886C>T (p.His296Tyr)	TP53 (H164Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 132972	NM_000546.6(TP53):c.666G>T (p.Pro222=)	TP53	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 133285	NM_000546.6(TP53):c.462C>T (p.Gly154=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
Select item 133284	NM_000546.6(TP53):c.460G>A (p.Gly154Ser)	TP53 (G115S +2 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +16 more	GUncertain significance
Select item 133283	NM_000546.6(TP53):c.450_459del (p.Pro151fs)	TP53 (P151fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	Gnot provided
Select item 133282	NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)	TP53	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome 1 +1 more	GPathogenic/Likely pathogenic
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