ClinVar for PubMed (Select 27680515) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1698604	NM_000546.6(TP53):c.1028del (p.Glu343fs)	TP53 (E184fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome +1 more	GPathogenic/Likely pathogenic
Select item 630765	NM_000546.6(TP53):c.672+1G>T	TP53	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 490174	NM_000546.6(TP53):c.509C>G (p.Thr170Arg)	TP53 (T131R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GUncertain significance
Select item 486998	NM_000546.6(TP53):c.1041C>G (p.Ala347=)	TP53	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 486555	NM_000546.6(TP53):c.848G>C (p.Arg283Pro)	TP53 (R244P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 480765	NM_000546.6(TP53):c.920-1G>T	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic
Select item 420136	NM_000546.6(TP53):c.749C>T (p.Pro250Leu)	TP53 (P118L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 414036	NM_000546.6(TP53):c.45T>C (p.Ser15=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +4 more	GLikely benign
Select item 406564	NM_000546.6(TP53):c.464C>A (p.Thr155Asn)	TP53 (T155N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 387437	NM_000546.6(TP53):c.919+7A>C	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 376574	NM_000546.6(TP53):c.713G>T (p.Cys238Phe)	TP53 (C106F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic/Likely pathogenic
Select item 265337	NM_000546.6(TP53):c.643A>G (p.Ser215Gly)	TP53 (S176G +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 256602	NM_000546.6(TP53):c.559+8G>A	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 245851	NM_000546.6(TP53):c.523C>T (p.Arg175Cys)	TP53 (R136C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 237956	NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	TP53 (R150Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +6 more	GConflicting classifications of pathogenicity
Select item 237941	NM_000546.6(TP53):c.11C>T (p.Pro4Leu)	TP53 (P4L)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 237939	NM_000546.6(TP53):c.1100+8A>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 234059	NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)	TP53 (G224R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 216466	NM_000546.6(TP53):c.388C>T (p.Leu130Phe)	TP53 (L130F +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185834	NM_000546.6(TP53):c.180A>C (p.Pro60=)	TP53	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 185404	NM_000546.6(TP53):c.469G>A (p.Val157Ile)	TP53 (V118I +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 184097	NM_000546.6(TP53):c.255T>C (p.Pro85=)	TP53	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 183903	NM_000546.6(TP53):c.618G>A (p.Leu206=)	TP53	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 183836	NM_000546.6(TP53):c.6G>A (p.Glu2=)	TP53	Single nucleotide variant (synonymous variant +1 more)	TP53-related condition +5 more	GBenign/Likely benign
Select item 182970	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53 (R210* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +14 more	GPathogenic
Select item 182953	NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)	TP53 (P72C +1 more)	Indel (missense variant)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 182945	NM_000546.6(TP53):c.97-9C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
Select item 177825	NM_000546.6(TP53):c.375G>A (p.Thr125=)	TP53	Single nucleotide variant (synonymous variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 142846	NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)	TP53 (E207K +3 more)	Single nucleotide variant (missense variant +1 more)	TP53-related condition +5 more	GConflicting classifications of pathogenicity
Select item 142552	NM_000546.6(TP53):c.1079G>T (p.Gly360Val)	TP53 (G228V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 142536	NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	TP53 (R205C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 142320	NM_000546.6(TP53):c.542G>A (p.Arg181His)	TP53 (R142H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GConflicting classifications of pathogenicity
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 +5 more	GUncertain significance
Select item 142144	NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1 +4 more	GPathogenic
Select item 142003	NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)	TP53 (G228A +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
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 141764	NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	TP53 (R135W +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +14 more	GPathogenic/Likely pathogenic
Select item 141483	NM_000546.6(TP53):c.892G>A (p.Glu298Lys)	TP53 (E166K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 141102	NM_000546.6(TP53):c.935C>G (p.Thr312Ser)	TP53 (T180S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 140786	NM_000546.5(TP53):c.319T>C (p.Tyr107His)	TP53 (Y107H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 135950	NM_000546.6(TP53):c.582T>C (p.Leu194=)	TP53	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
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 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 133284	NM_000546.6(TP53):c.460G>A (p.Gly154Ser)	TP53 (G115S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +16 more	GUncertain significance
Select item 127825	NM_000546.6(TP53):c.869G>A (p.Arg290His)	TP53 (R158H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
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 127823	NM_000546.6(TP53):c.800G>A (p.Arg267Gln)	TP53 (R135Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance 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 127819	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53 (Y181C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 127811	NM_000546.6(TP53):c.467G>A (p.Arg156His)	TP53 (R117H +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance 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 127806	NM_000546.6(TP53):c.28G>A (p.Val10Ile)	TP53 (V10I)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 127805	NM_000546.6(TP53):c.248C>T (p.Ala83Val)	TP53 (A44V +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +5 more	GConflicting classifications of pathogenicity
Select item 43594	NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	TP53 (R141C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GPathogenic/Likely pathogenic
Select item 43590	NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome +6 more	GPathogenic
Select item 12382	NM_000546.6(TP53):c.566C>T (p.Ala189Val)	TP53 (A189V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GConflicting classifications of pathogenicity
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	not provided +15 more	GPathogenic
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 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 12347	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	TP53 (R248W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database

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Items: 61