ClinVar for MedGen (Select 348508) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3240619	NM_000546.6(TP53):c.993+32A>T	TP53	Single nucleotide variant (intron variant)	Adrenocortical carcinoma, hereditary	GUncertain significance
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 3240616	NM_000546.6(TP53):c.917_919+5delinsAGGA	TP53	Indel (splice donor variant)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 3240615	NM_000546.6(TP53):c.75-7_82delinsA	TP53	Indel (5 prime UTR variant +1 more)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
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 3068296	NM_000546.6(TP53):c.1133C>A (p.Ser378Tyr)	TP53 (S219Y +3 more)	Single nucleotide variant (missense variant +2 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
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 2679240	NM_000546.6(TP53):c.97_99del (p.Ser33del)	TP53 (S33del)	Deletion (inframe deletion +2 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 2679239	NM_000546.6(TP53):c.245_260del (p.Pro82fs)	TP53 (P43fs +1 more)	Deletion (frameshift variant +1 more)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
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 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 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 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 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 2679233	NM_000546.6(TP53):c.783-10T>G	TP53	Single nucleotide variant (intron variant)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 2679232	NM_000546.6(TP53):c.445T>C (p.Ser149Pro)	TP53 (S110P +2 more)	Single nucleotide variant (missense variant +2 more)	Adrenocortical carcinoma, hereditary +1 more	GUncertain significance
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 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 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 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 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 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 1802458	NM_000546.6(TP53):c.406C>T (p.Gln136Ter)	TP53 (Q136* +2 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome 1 +2 more	GPathogenic
Select item 1792511	NM_000546.6(TP53):c.251C>T (p.Ala84Val)	TP53 (A84V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1759142	NM_000546.6(TP53):c.748C>G (p.Pro250Ala)	TP53 (P118A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GUncertain significance
Select item 1521256	NM_000546.6(TP53):c.540G>T (p.Glu180Asp)	TP53 (E141D +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +2 more	GUncertain significance
Select item 1471105	NM_000546.6(TP53):c.926C>T (p.Pro309Leu)	TP53 (P150L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 1351017	NM_000546.6(TP53):c.440T>A (p.Val147Asp)	TP53 (V108D +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1341341	NM_000546.6(TP53):c.72dup (p.Leu25fs)	TP53 (L25fs)	Duplication (frameshift variant +1 more)	Choroid plexus papilloma +6 more	GPathogenic
Select item 1192295	NM_000546.6(TP53):c.993+2T>C	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1021810	NM_000546.6(TP53):c.978A>T (p.Glu326Asp)	TP53 (E167D +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +2 more	GUncertain significance
Select item 979079	NM_000546.6(TP53):c.272G>A (p.Trp91Ter)	TP53 (W52* +1 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome +1 more	GPathogenic/Likely pathogenic
Select item 951578	NM_000546.6(TP53):c.1001G>A (p.Gly334Glu)	TP53 (G202E +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 951459	NM_000546.6(TP53):c.677G>C (p.Gly226Ala)	TP53 (G187A +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +12 more	GUncertain significance
Select item 921142	NM_000546.6(TP53):c.692C>G (p.Thr231Ser)	TP53 (T99S +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +3 more	GUncertain significance
Select item 860528	NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)	TP53 (K382T +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +2 more	GUncertain significance
Select item 855943	NM_000546.6(TP53):c.950A>T (p.Gln317Leu)	TP53 (Q278L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	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)	Li-Fraumeni syndrome +2 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)	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 835067	NM_000546.6(TP53):c.47A>G (p.Gln16Arg)	TP53 (Q16R)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +1 more	GUncertain significance
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 820144	NM_000546.6(TP53):c.183T>A (p.Asp61Glu)	TP53 (D22E +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 650431	NM_000546.6(TP53):c.559+5G>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 649358	NM_000546.6(TP53):c.346T>G (p.Ser116Ala)	TP53 (S77A +1 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 642623	NM_000546.6(TP53):c.48G>C (p.Gln16His)	TP53 (Q16H)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GUncertain significance
Select item 638852	NM_000546.6(TP53):c.97-11C>G	TP53	Single nucleotide variant (intron variant)	Adrenocortical carcinoma, hereditary +1 more	GPathogenic
Select item 634778	NM_000546.6(TP53):c.808T>C (p.Phe270Leu)	TP53 (F138L +3 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 634770	NM_000546.6(TP53):c.711G>T (p.Met237Ile)	TP53 (M105I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 634769	NM_000546.6(TP53):c.560-1G>A	TP53	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic OOncogenic
Select item 634682	NM_000546.6(TP53):c.817C>G (p.Arg273Gly)	TP53 (R141G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +13 more	GPathogenic/Likely pathogenic
Select item 633606	NM_000546.6(TP53):c.919+1G>A	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 578988	NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)	TP53 (Y126* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 528250	NM_000546.6(TP53):c.499C>T (p.Gln167Ter)	TP53 (Q167* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome +4 more	GPathogenic/Likely pathogenic
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 1 +3 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 485030	NM_000546.6(TP53):c.533A>C (p.His178Pro)	TP53 (H139P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 482212	NM_000546.6(TP53):c.96+1G>T	TP53	Single nucleotide variant (splice donor variant)	Carcinoma of pancreas +12 more	GPathogenic/Likely pathogenic
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 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 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 480761	NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)	TP53 (G361R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 480746	NM_000546.6(TP53):c.375G>C (p.Thr125=)	TP53	Single nucleotide variant (synonymous variant)	TP53-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 458574	NM_000546.6(TP53):c.917G>A (p.Arg306Gln)	TP53 (R267Q +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +6 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)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 458566	NM_000546.6(TP53):c.796G>A (p.Gly266Arg)	TP53 (G134R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GPathogenic OOncogenic
Select item 458545	NM_000546.6(TP53):c.476C>T (p.Ala159Val)	TP53 (A120V +2 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 458543	NM_000546.6(TP53):c.388C>G (p.Leu130Val)	TP53 (L130V +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
Select item 458535	NM_000546.6(TP53):c.322G>C (p.Gly108Arg)	TP53 (G108R +1 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +4 more	GUncertain significance
Select item 458520	NM_000546.6(TP53):c.1140del (p.His380fs)	TP53 (H341fs +3 more)	Deletion (frameshift variant +1 more)	Colorectal cancer +7 more	GConflicting classifications of pathogenicity
Select item 444396	NM_000546.6(TP53):c.478A>G (p.Met160Val)	TP53 (M121V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 428908	NM_000546.6(TP53):c.559+1G>A	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome +13 more	GPathogenic/Likely pathogenic
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 428873	NM_000546.6(TP53):c.389T>C (p.Leu130Pro)	TP53 (L130P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic
Select item 421437	NM_000546.6(TP53):c.399G>A (p.Met133Ile)	TP53 (M133I +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 420659	NM_000546.6(TP53):c.159G>A (p.Trp53Ter)	TP53 (W14* +1 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1 +4 more	GPathogenic
Select item 419040	NM_000546.6(TP53):c.686G>A (p.Cys229Tyr)	TP53 (C190Y +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 406605	NM_000546.6(TP53):c.760A>G (p.Ile254Val)	TP53 (I215V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 406602	NM_000546.6(TP53):c.448_460del (p.Thr150fs)	TP53 (T18fs +2 more)	Deletion (frameshift variant +1 more)	Adrenocortical carcinoma, hereditary +3 more	GPathogenic
Select item 406587	NM_000546.6(TP53):c.941C>T (p.Ser314Phe)	TP53 (S275F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 389752	NM_000546.6(TP53):c.-12C>T	TP53	Single nucleotide variant (5 prime UTR variant)	Li-Fraumeni syndrome 1 +13 more	GConflicting classifications of pathogenicity
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 376687	NM_000546.6(TP53):c.658T>C (p.Tyr220His)	TP53 (Y181H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376680	NM_000546.6(TP53):c.487T>C (p.Tyr163His)	TP53 (Y124H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376662	NM_000546.6(TP53):c.644G>A (p.Ser215Asn)	TP53 (S176N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376659	NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	TP53 (R150P +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +14 more	GPathogenic/Likely 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 +3 more	GConflicting classifications of pathogenicity
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +15 more	GPathogenic OOncogenic
Select item 376646	NM_000546.6(TP53):c.833C>A (p.Pro278His)	TP53 (P146H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376628	NM_000546.6(TP53):c.394A>C (p.Lys132Gln)	TP53 (K132Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376610	NM_000546.6(TP53):c.535C>G (p.His179Asp)	TP53 (H140D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 376608	NM_000546.6(TP53):c.536A>T (p.His179Leu)	TP53 (H140L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376603	NM_000546.6(TP53):c.734G>T (p.Gly245Val)	TP53 (G113V +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic OOncogenic
Select item 376600	NM_000546.6(TP53):c.730G>A (p.Gly244Ser)	TP53 (G112S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GPathogenic 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 1 +4 more	GConflicting classifications of pathogenicity
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 376016	NM_000546.6(TP53):c.518T>G (p.Val173Gly)	TP53 (V134G +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +1 more	GConflicting classifications of pathogenicity

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