"BRCAlab, Lund University"[submitter] AND "TP53"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142536	NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	TP53 (R205C +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 428868	NM_000546.6(TP53):c.993G>A (p.Gln331=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome 1 +4 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 142144	NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic OOncogenic
Select item 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype +10 more	GPathogenic/Likely pathogenic OOncogenic
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 1713235	NM_000546.6(TP53):c.715_718dup (p.Ser240fs)	TP53 (S108fs +3 more)	Duplication (frameshift variant)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 1686269	NM_000546.6(TP53):c.708C>G (p.Tyr236Ter)	TP53 (Y104* +3 more)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic
Select item 135359	NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	TP53 (R174Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 43590	NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1 +6 more	GPathogenic
Select item 142320	NM_000546.6(TP53):c.542G>A (p.Arg181His)	TP53 (R142H +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +5 more	GConflicting classifications of pathogenicity
Select item 376572	NM_000546.6(TP53):c.528C>G (p.Cys176Trp)	TP53 (C137W +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 233951	NM_000546.6(TP53):c.517G>A (p.Val173Met)	TP53 (V134M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
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 1018290	NM_000546.6(TP53):c.402T>G (p.Phe134Leu)	TP53 (F134L +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 376625	NM_000546.6(TP53):c.395A>G (p.Lys132Arg)	TP53 (K132R +1 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 177825	NM_000546.6(TP53):c.375G>A (p.Thr125=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +7 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 183748	NM_000546.6(TP53):c.374C>T (p.Thr125Met)	TP53 (T125M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity OLikely oncogenic
Select item 142206	NM_000546.6(TP53):c.328C>T (p.Arg110Cys)	TP53 (R110C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance OLikely oncogenic
Select item 1713234	NC_000017.10:g.7574126_7586609del	TP53	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1713233	NC_000017.10:g.7584834_7594887del	TP53, WRAP53	Deletion	Hereditary cancer-predisposing syndrome	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20