"ITMI"[submitter] AND "TP53"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135360	NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)	TP53 (S234A +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 135361	NM_000546.6(TP53):c.993+223T>G	TP53 (C209G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 127824	NM_000546.6(TP53):c.847C>T (p.Arg283Cys)	TP53 (R151C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 127821	NM_000546.6(TP53):c.704A>G (p.Asn235Ser)	TP53 (N103S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 133419	NM_000546.6(TP53):c.672+35G>T	TP53	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 133420	NM_000546.6(TP53):c.672+31A>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
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
Select item 135358	NM_000546.6(TP53):c.605G>A (p.Arg202His)	TP53 (R163H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127816	NM_000546.6(TP53):c.572C>G (p.Pro191Arg)	TP53 (P152R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 127808	NM_000546.6(TP53):c.329G>A (p.Arg110His)	TP53 (R110H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 12351	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	TP53 (P72R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +16 more	GBenign
Select item 127804	NM_000546.6(TP53):c.173C>G (p.Pro58Arg)	TP53 (P19R +1 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 43588	NM_000546.6(TP53):c.139C>T (p.Pro47Ser)	TP53 (P47S +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 127827	NM_000546.6(TP53):c.91G>A (p.Val31Ile)	TP53 (V31I)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity