"Baylor Genetics"[submitter] AND "TP53"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3232049	NM_000546.6(TP53):c.1171G>A (p.Asp391Asn)	TP53 (D232N +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 860528	NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)	TP53 (K382T +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GUncertain significance
Select item 141583	NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)	TP53 (G242S +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +2 more	GConflicting classifications of pathogenicity
Select item 485038	NM_000546.6(TP53):c.1104C>G (p.His368Gln)	TP53 (H368Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3240618	NM_000546.6(TP53):c.1087_1088inv (p.Arg363Leu)	TP53 (R204L +3 more)	Inversion (missense variant +2 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 480761	NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)	TP53 (G361R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GUncertain significance
Select item 528241	NM_000546.6(TP53):c.1064C>T (p.Ala355Val)	TP53 (A355V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3240620	NM_000546.6(TP53):c.1054G>A (p.Asp352Asn)	TP53 (D193N +3 more)	Single nucleotide variant (missense variant +2 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 854234	NM_000546.6(TP53):c.1048C>G (p.Leu350Val)	TP53 (L191V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 12375	NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	TP53 (L344P +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely pathogenic FDA Recognized database
Select item 2679227	NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)	TP53 (E184D +3 more)	Single nucleotide variant (missense variant +2 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 182970	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53 (R210* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +14 more	GPathogenic
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 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 141159	NM_000546.6(TP53):c.1003C>T (p.Arg335Cys)	TP53 (R203C +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 951578	NM_000546.6(TP53):c.1001G>A (p.Gly334Glu)	TP53 (G202E +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GUncertain significance
Select item 184745	NM_000546.6(TP53):c.997C>T (p.Arg333Cys)	TP53 (R201C +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 3240619	NM_000546.6(TP53):c.993+32A>T	TP53	Single nucleotide variant (intron variant)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 1192295	NM_000546.6(TP53):c.993+2T>C	TP53	Single nucleotide variant (splice donor variant)	Adrenocortical carcinoma, hereditary +1 more	GPathogenic/Likely pathogenic
Select item 279962	NM_000546.6(TP53):c.983dup (p.Thr329fs)	TP53 (T290fs +3 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 1021810	NM_000546.6(TP53):c.978A>T (p.Glu326Asp)	TP53 (E167D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GUncertain significance
Select item 480952	NM_000546.6(TP53):c.974G>A (p.Gly325Glu)	TP53 (G193E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2679234	NM_000546.6(TP53):c.967C>G (p.Leu323Val)	TP53 (L164V +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 2679228	NM_000546.6(TP53):c.965C>G (p.Pro322Arg)	TP53 (P163R +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 855943	NM_000546.6(TP53):c.950A>T (p.Gln317Leu)	TP53 (Q278L +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +1 more	GUncertain significance
Select item 848532	NM_000546.6(TP53):c.941C>G (p.Ser314Cys)	TP53 (S314C +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +1 more	GUncertain significance
Select item 406587	NM_000546.6(TP53):c.941C>T (p.Ser314Phe)	TP53 (S275F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2679231	NM_000546.6(TP53):c.934A>G (p.Thr312Ala)	TP53 (T153A +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 1471105	NM_000546.6(TP53):c.926C>T (p.Pro309Leu)	TP53 (P150L +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +1 more	GUncertain significance
Select item 3240616	NM_000546.6(TP53):c.917_919+5delinsAGGA	TP53	Indel (splice donor variant)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 458574	NM_000546.6(TP53):c.917G>A (p.Arg306Gln)	TP53 (R267Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2679238	NM_000546.6(TP53):c.893A>C (p.Glu298Ala)	TP53 (E139A +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 2679235	NM_000546.6(TP53):c.876A>T (p.Lys292Asn)	TP53 (K133N +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 480951	NM_000546.6(TP53):c.871A>G (p.Lys291Glu)	TP53 (K159E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GUncertain significance
Select item 633445	NM_000546.6(TP53):c.869G>T (p.Arg290Leu)	TP53 (R158L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GUncertain significance
Select item 2679230	NM_000546.6(TP53):c.851C>G (p.Thr284Arg)	TP53 (T125R +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 142324	NM_000546.6(TP53):c.848G>A (p.Arg283His)	TP53 (R151H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +7 more	GUncertain significance
Select item 237956	NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	TP53 (R150Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 182938	NM_000546.6(TP53):c.845G>T (p.Arg282Leu)	TP53 (R150L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GUncertain significance 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 +10 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376589	NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	TP53 (D149A +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 376658	NM_000546.6(TP53):c.838A>G (p.Arg280Gly)	TP53 (R148G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 458568	NM_000546.6(TP53):c.835G>A (p.Gly279Arg)	TP53 (G240R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376646	NM_000546.6(TP53):c.833C>A (p.Pro278His)	TP53 (P146H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 185722	NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)	TP53 (C145Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 428893	NM_000546.6(TP53):c.826G>C (p.Ala276Pro)	TP53 (A144P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 215997	NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	TP53 (C143Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic OOncogenic
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 376597	NM_000546.6(TP53):c.809T>G (p.Phe270Cys)	TP53 (F138C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
Select item 634778	NM_000546.6(TP53):c.808T>C (p.Phe270Leu)	TP53 (F138L +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +4 more	GConflicting classifications of pathogenicity
Select item 852206	NM_000546.6(TP53):c.800G>T (p.Arg267Leu)	TP53 (R108L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GUncertain significance
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 1761541	NM_000546.6(TP53):c.799C>G (p.Arg267Gly)	TP53 (R228G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
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 458566	NM_000546.6(TP53):c.796G>A (p.Gly266Arg)	TP53 (G134R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GPathogenic OOncogenic
Select item 142916	NM_000546.6(TP53):c.787A>G (p.Asn263Asp)	TP53 (N131D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141228	NM_000546.6(TP53):c.784G>A (p.Gly262Ser)	TP53 (G130S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 2679233	NM_000546.6(TP53):c.783-10T>G	TP53	Single nucleotide variant (intron variant)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 1759142	NM_000546.6(TP53):c.748C>G (p.Pro250Ala)	TP53 (P118A +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +2 more	GUncertain significance
Select item 141881	NM_000546.6(TP53):c.745A>T (p.Arg249Trp)	TP53 (R117W +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +4 more	GConflicting classifications of pathogenicity
Select item 230253	NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	TP53 (R116L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
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 12347	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	TP53 (R248W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 376603	NM_000546.6(TP53):c.734G>T (p.Gly245Val)	TP53 (G113V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GPathogenic OOncogenic
Select item 265357	NM_000546.6(TP53):c.734G>C (p.Gly245Ala)	TP53 (G113A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 12355	NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	TP53 (G245D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GPathogenic/Likely pathogenic
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 376600	NM_000546.6(TP53):c.730G>A (p.Gly244Ser)	TP53 (G112S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GPathogenic OOncogenic
Select item 2679237	NM_000546.6(TP53):c.722_728del (p.Ser241fs)	TP53 (S109fs +3 more)	Deletion (frameshift variant +1 more)	Adrenocortical carcinoma, hereditary +1 more	GPathogenic/Likely pathogenic
Select item 182936	NM_000546.6(TP53):c.728T>C (p.Met243Thr)	TP53 (M111T +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2679241	NM_000546.6(TP53):c.717del (p.Asn239fs)	TP53 (N107fs +3 more)	Deletion (frameshift variant +1 more)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 385614	NM_000546.6(TP53):c.717C>G (p.Asn239Lys)	TP53 (N107K +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +3 more	GConflicting classifications of pathogenicity
Select item 234036	NM_000546.6(TP53):c.715A>G (p.Asn239Asp)	TP53 (N107D +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +4 more	GConflicting classifications of pathogenicity
Select item 182935	NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)	TP53 (C106Y +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 634770	NM_000546.6(TP53):c.711G>T (p.Met237Ile)	TP53 (M105I +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +2 more	GPathogenic/Likely pathogenic
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 921142	NM_000546.6(TP53):c.692C>G (p.Thr231Ser)	TP53 (T99S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GUncertain significance
Select item 419040	NM_000546.6(TP53):c.686G>A (p.Cys229Tyr)	TP53 (C190Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
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 216078	NM_000546.6(TP53):c.672+1G>A	TP53	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 826574	NM_000546.6(TP53):c.671A>G (p.Glu224Gly)	TP53 (E185G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 480767	NM_000546.6(TP53):c.670G>A (p.Glu224Lys)	TP53 (E92K +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 127819	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53 (Y181C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 376687	NM_000546.6(TP53):c.658T>C (p.Tyr220His)	TP53 (Y181H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
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 376662	NM_000546.6(TP53):c.644G>A (p.Ser215Asn)	TP53 (S176N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135359	NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	TP53 (R174Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 2450746	NM_000546.6(TP53):c.627A>C (p.Arg209Ser)	TP53 (R170S +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +1 more	GConflicting classifications of pathogenicity
Select item 2679229	NM_000546.6(TP53):c.617T>G (p.Leu206Trp)	TP53 (L167W +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 127818	NM_000546.6(TP53):c.604C>T (p.Arg202Cys)	TP53 (R163C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 216467	NM_000546.6(TP53):c.587G>A (p.Arg196Gln)	TP53 (R157Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 43589	NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	TP53 (R157* +3 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 216077	NM_000546.6(TP53):c.584T>C (p.Ile195Thr)	TP53 (I156T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity OOncogenic
Select item 184979	NM_000546.6(TP53):c.578A>G (p.His193Arg)	TP53 (H154R +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +5 more	GPathogenic/Likely pathogenic
Select item 182931	NM_000546.6(TP53):c.575A>G (p.Gln192Arg)	TP53 (Q153R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 2679236	NM_000546.6(TP53):c.574C>G (p.Gln192Glu)	TP53 (Q153E +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 634769	NM_000546.6(TP53):c.560-1G>A	TP53	Single nucleotide variant (splice acceptor variant)	Adrenocortical carcinoma, hereditary +4 more	GPathogenic OOncogenic
Select item 650431	NM_000546.6(TP53):c.559+5G>C	TP53	Single nucleotide variant (intron variant)	Adrenocortical carcinoma, hereditary +1 more	GUncertain significance
Select item 428908	NM_000546.6(TP53):c.559+1G>A	TP53	Single nucleotide variant (splice donor variant)	Bone osteosarcoma +13 more	GPathogenic/Likely pathogenic

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