"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "TP53"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 141331	NM_000546.6(TP53):c.1082G>A (p.Gly361Glu)	TP53 (G229E +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 182952	NM_000546.6(TP53):c.1014C>T (p.Phe338=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 12379	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53 (R337H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +17 more	GPathogenic/Likely pathogenic
Select item 93325	NM_000546.6(TP53):c.993+12T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +6 more	GBenign/Likely benign
Select item 12367	NM_000546.6(TP53):c.974G>T (p.Gly325Val)	TP53 (G325V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 492744	NM_000546.6(TP53):c.970del (p.Asp324fs)	TP53 (D165fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 492745	NM_000546.6(TP53):c.896_909del (p.Leu299fs)	TP53 (L140fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 183849	NM_000546.6(TP53):c.891C>T (p.His297=)	TP53	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic OOncogenic
Select item 419454	NM_000546.6(TP53):c.836G>A (p.Gly279Glu)	TP53 (G147E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 492746	NM_000546.6(TP53):c.831T>A (p.Cys277Ter)	TP53 (C145* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1 +2 more	GPathogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 43594	NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	TP53 (R141C +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 12348	NM_000546.6(TP53):c.772G>A (p.Glu258Lys)	TP53 (E258K +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 233767	NM_000546.6(TP53):c.769C>T (p.Leu257=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
Select item 376654	NM_000546.6(TP53):c.745A>G (p.Arg249Gly)	TP53 (R117G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic 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 142714	NM_000546.6(TP53):c.711G>A (p.Met237Ile)	TP53 (M105I +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 141224	NM_000546.6(TP53):c.695T>C (p.Ile232Thr)	TP53 (I100T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 648028	NM_000546.6(TP53):c.676G>A (p.Gly226Ser)	TP53 (G226S +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 182965	NM_000546.6(TP53):c.646G>A (p.Val216Met)	TP53 (V177M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 492747	NM_000546.6(TP53):c.643_644dup (p.Ser215fs)	TP53 (S215fs +3 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 43591	NM_000546.6(TP53):c.639A>G (p.Arg213=)	TP53	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 1503185	NM_000546.6(TP53):c.632C>T (p.Thr211Ile)	TP53 (T172I +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 492748	NM_000546.6(TP53):c.560-1G>C	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 492749	NM_000546.6(TP53):c.559+24C>T	TP53	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 458547	NM_000546.6(TP53):c.530C>G (p.Pro177Arg)	TP53 (P177R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GPathogenic/Likely pathogenic
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 376649	NM_000546.6(TP53):c.523C>G (p.Arg175Gly)	TP53 (R136G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 376669	NM_000546.6(TP53):c.518T>A (p.Val173Glu)	TP53 (V134E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 492750	NM_000546.6(TP53):c.469_476del (p.Val157fs)	TP53 (V118fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 141963	NM_000546.6(TP53):c.473G>A (p.Arg158His)	TP53 (R119H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 406602	NM_000546.6(TP53):c.448_460del (p.Thr150fs)	TP53 (T18fs +2 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 142766	NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	TP53 (P113L +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 141762	NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)	TP53 (C135Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 492751	NM_000546.6(TP53):c.400_401insG (p.Phe134fs)	TP53 (F2fs +2 more)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 230477	NM_000546.6(TP53):c.401T>G (p.Phe134Cys)	TP53 (F134C +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 185593	NM_000546.6(TP53):c.376-2dup	TP53	Duplication (5 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 177825	NM_000546.6(TP53):c.375G>A (p.Thr125=)	TP53	Single nucleotide variant (synonymous variant)	Glioma susceptibility 1 +7 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 141101	NM_000546.6(TP53):c.364G>A (p.Val122Met)	TP53 (V122M +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 492752	NM_000546.6(TP53):c.318C>G (p.Ser106Arg)	TP53 (S106R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12351	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	TP53 (P72R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +17 more	GBenign OBenign
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 492753	NM_000546.6(TP53):c.116_117del (p.Ala39fs)	TP53 (A39fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 132708	NM_000546.6(TP53):c.108G>A (p.Pro36=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +5 more	GBenign
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +17 more	GBenign/Likely benign
Select item 256604	NM_000546.6(TP53):c.97-29C>A	TP53	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 492754	NM_000546.6(TP53):c.96+25ACCTGGAGGGCTGGGG[3]	TP53	Microsatellite (intron variant)	not specified	GLikely benign
Select item 492755	NM_000546.6(TP53):c.96+14T>C	TP53	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 137691	NM_000546.6(TP53):c.74+38C>G	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 182940	NM_000546.6(TP53):c.18A>C (p.Ser6=)	TP53	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign

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Items: 52