ClinVar for PubMed (Select 29979965) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328154	NM_000546.6(TP53):c.503A>C (p.His168Pro)	TP53 (H129P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3257753	NM_000546.6(TP53):c.373_375+1delinsCCTT	TP53 (T125P +1 more)	Single nucleotide variant (synonymous variant +2 more)	Neoplasm	OLikely oncogenic
Select item 3232058	NM_000546.6(TP53):c.629A>G (p.Asn210Ser)	TP53 (N171S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3148769	NM_000546.6(TP53):c.757A>C (p.Thr253Pro)	TP53 (T253P +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +1 more	GLikely pathogenic
Select item 3148447	NM_000546.6(TP53):c.316_336del (p.Ser106_Gly112del)	TP53	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148403	NM_000546.6(TP53):c.613_618del (p.Tyr205_Leu206del)	TP53	Deletion (inframe_deletion)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148392	NM_000546.6(TP53):c.325_330del (p.Phe109_Arg110del)	TP53	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148387	NM_000546.6(TP53):c.564_581del (p.Ala189_Leu194del)	TP53	Deletion (inframe_deletion)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148383	NM_000546.6(TP53):c.470_471delinsGT (p.Val157Gly)	TP53 (V25G +2 more)	Indel (missense variant +2 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148371	NM_000546.6(TP53):c.422_433del (p.Cys141_Gln144del)	TP53	Deletion (inframe_deletion +2 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148344	NM_000546.6(TP53):c.470_475del (p.Val157_Arg158del)	TP53	Deletion (inframe_deletion +2 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148284	NM_000546.6(TP53):c.792_794del (p.Leu265del)	TP53 (L133del +3 more)	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148268	NM_000546.6(TP53):c.637_660del (p.Arg213_Tyr220del)	TP53	Deletion (inframe_deletion)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148254	NM_000546.6(TP53):c.770_772del (p.Leu257_Glu258delinsGln)	TP53	Deletion (inframe_indel +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3147994	NM_000546.6(TP53):c.812A>T (p.Glu271Val)	TP53 (E139V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3011115	NM_000546.6(TP53):c.1037A>G (p.Glu346Gly)	TP53 (E187G +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2993845	NM_000546.6(TP53):c.785G>A (p.Gly262Asp)	TP53 (G223D +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2969522	NM_000546.6(TP53):c.619G>A (p.Asp207Asn)	TP53 (D207N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2915501	NM_000546.6(TP53):c.479T>C (p.Met160Thr)	TP53 (M160T +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2891760	NM_000546.6(TP53):c.943T>C (p.Ser315Pro)	TP53 (S276P +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2886753	NM_000546.6(TP53):c.505A>T (p.Met169Leu)	TP53 (M130L +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2877402	NM_000546.6(TP53):c.148A>C (p.Ile50Leu)	TP53 (I11L +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2863364	NM_000546.6(TP53):c.894G>C (p.Glu298Asp)	TP53 (E166D +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2861491	NM_000546.6(TP53):c.259C>G (p.Pro87Ala)	TP53 (P48A +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2848843	NM_000546.6(TP53):c.10C>G (p.Pro4Ala)	TP53 (P4A)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2848594	NM_000546.6(TP53):c.492G>T (p.Lys164Asn)	TP53 (K32N +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2847409	NM_000546.6(TP53):c.1054G>C (p.Asp352His)	TP53 (D220H +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2841682	NM_000546.6(TP53):c.928A>C (p.Asn310His)	TP53 (N178H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2840669	NM_000546.6(TP53):c.461G>C (p.Gly154Ala)	TP53 (G154A +2 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2831391	NM_000546.6(TP53):c.803A>G (p.Asn268Ser)	TP53 (N136S +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2831221	NM_000546.6(TP53):c.713_727del (p.Cys238_Met243delinsLeu)	TP53	Deletion (inframe_indel +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 2831218	NM_000546.6(TP53):c.253C>G (p.Pro85Ala)	TP53 (P46A +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2831109	NM_000546.6(TP53):c.259C>T (p.Pro87Ser)	TP53 (P48S +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2827498	NM_000546.6(TP53):c.694A>T (p.Ile232Phe)	TP53 (I100F +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2826159	NM_000546.6(TP53):c.767C>A (p.Thr256Lys)	TP53 (T217K +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2825997	NM_000546.6(TP53):c.278T>G (p.Leu93Arg)	TP53 (L93R +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2820330	NM_000546.6(TP53):c.1070A>C (p.Lys357Thr)	TP53 (K198T +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2813114	NM_000546.6(TP53):c.29T>A (p.Val10Asp)	TP53 (V10D)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2812726	NM_000546.6(TP53):c.175G>T (p.Gly59Cys)	TP53 (G59C +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2811095	NM_000546.6(TP53):c.254C>T (p.Pro85Leu)	TP53 (P46L +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2808296	NM_000546.6(TP53):c.773A>T (p.Glu258Val)	TP53 (E258V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2795844	NM_000546.6(TP53):c.143A>G (p.Asp48Gly)	TP53 (D48G +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2783073	NM_000546.6(TP53):c.980A>G (p.Tyr327Cys)	TP53 (Y195C +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2780373	NM_000546.6(TP53):c.533A>G (p.His178Arg)	TP53 (H46R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 2774655	NM_000546.6(TP53):c.127T>G (p.Leu43Val)	TP53 (L43V +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 2774652	NM_000546.6(TP53):c.433C>G (p.Leu145Val)	TP53 (L106V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774651	NM_000546.6(TP53):c.544T>C (p.Cys182Arg)	TP53 (C182R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774649	NM_000546.6(TP53):c.709A>T (p.Met237Leu)	TP53 (M105L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2768025	NM_000546.6(TP53):c.463A>C (p.Thr155Pro)	TP53 (T23P +2 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2765819	NM_000546.6(TP53):c.779C>T (p.Ser260Phe)	TP53 (S260F +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2764543	NM_000546.6(TP53):c.794T>G (p.Leu265Arg)	TP53 (L133R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2762393	NM_000546.6(TP53):c.1097C>A (p.Ser366Tyr)	TP53 (S366Y +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2759300	NM_000546.6(TP53):c.623A>C (p.Asp208Ala)	TP53 (D169A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2758381	NM_000546.6(TP53):c.655C>A (p.Pro219Thr)	TP53 (P180T +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2758378	NM_000546.6(TP53):c.1031T>G (p.Leu344Arg)	TP53 (L305R +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2758105	NM_000546.6(TP53):c.759_767del (p.Ile254_Thr256del)	TP53	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2757988	NM_000546.6(TP53):c.488A>C (p.Tyr163Ser)	TP53 (Y31S +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2757236	NM_000546.6(TP53):c.829T>G (p.Cys277Gly)	TP53 (C145G +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 2754115	NM_000546.6(TP53):c.446C>A (p.Ser149Tyr)	TP53 (S17Y +2 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2748594	NM_000546.6(TP53):c.716A>T (p.Asn239Ile)	TP53 (N80I +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2747093	NM_000546.6(TP53):c.176G>C (p.Gly59Ala)	TP53 (G20A +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2746088	NM_000546.6(TP53):c.1043T>C (p.Leu348Ser)	TP53 (L189S +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2736423	NM_000546.6(TP53):c.499C>A (p.Gln167Lys)	TP53 (Q8K +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2736417	NM_000546.6(TP53):c.706_708del (p.Tyr236del)	TP53 (Y104del +3 more)	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 2729592	NM_000546.6(TP53):c.308A>C (p.Tyr103Ser)	TP53 (Y103S +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2705758	NM_000546.6(TP53):c.163A>C (p.Thr55Pro)	TP53 (T55P +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2703874	NM_000546.6(TP53):c.572C>T (p.Pro191Leu)	TP53 (P191L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2702402	NM_000546.6(TP53):c.339C>G (p.Phe113Leu)	TP53 (F113L +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2695282	NM_000546.6(TP53):c.170A>G (p.Asp57Gly)	TP53 (D57G +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2694309	NM_000546.6(TP53):c.63C>G (p.Asp21Glu)	TP53 (D21E)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	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)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 2585883	NM_000546.6(TP53):c.529C>G (p.Pro177Ala)	TP53 (P177A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2450759	NM_000546.6(TP53):c.682G>T (p.Asp228Tyr)	TP53 (D228Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2450751	NM_000546.6(TP53):c.1049T>C (p.Leu350Pro)	TP53 (L191P +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 2450745	NM_000546.6(TP53):c.350G>A (p.Gly117Glu)	TP53 (G117E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2450739	NM_000546.6(TP53):c.598A>T (p.Asn200Tyr)	TP53 (N161Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2185665	NM_000546.6(TP53):c.517G>C (p.Val173Leu)	TP53 (V134L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2168377	NM_000546.6(TP53):c.218T>C (p.Val73Ala)	TP53 (V73A +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2137906	NM_000546.6(TP53):c.566C>A (p.Ala189Asp)	TP53 (A189D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2135554	NM_000546.6(TP53):c.762C>G (p.Ile254Met)	TP53 (I122M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2124706	NM_000546.6(TP53):c.725_726delinsCA (p.Cys242Ser)	TP53 (C203S +3 more)	Indel (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2123066	NM_000546.6(TP53):c.1139A>G (p.His380Arg)	TP53 (H248R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2113149	NM_000546.6(TP53):c.807C>G (p.Ser269Arg)	TP53 (S110R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2080519	NM_000546.6(TP53):c.431A>G (p.Gln144Arg)	TP53 (Q105R +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 2055104	NM_000546.6(TP53):c.818_826delinsACA (p.Arg273_Ala276delinsHisThr)	TP53	Indel (inframe_indel)	Li-Fraumeni syndrome	GUncertain significance
Select item 2036477	NM_000546.6(TP53):c.896T>C (p.Leu299Pro)	TP53 (L260P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2035647	NM_000546.6(TP53):c.314G>C (p.Gly105Ala)	TP53 (G105A +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2032550	NM_000546.6(TP53):c.560G>T (p.Gly187Val)	TP53 (G28V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2029805	NM_000546.6(TP53):c.247G>A (p.Ala83Thr)	TP53 (A83T +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2027148	NM_000546.6(TP53):c.283_376-269del	TP53	Deletion (splice donor variant)	Li-Fraumeni syndrome	GPathogenic
Select item 2019530	NM_000546.6(TP53):c.482C>T (p.Ala161Val)	TP53 (A29V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 2001127	NM_000546.6(TP53):c.838_840del (p.Arg280del)	TP53 (R148del +3 more)	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 1992967	NM_000546.6(TP53):c.485T>C (p.Ile162Thr)	TP53 (I123T +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 1909172	NM_000546.6(TP53):c.475G>A (p.Ala159Thr)	TP53 (A159T +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1793227	NM_000546.6(TP53):c.256G>C (p.Ala86Pro)	TP53 (A86P +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1787901	NM_000546.6(TP53):c.221C>G (p.Ala74Gly)	TP53 (A35G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1775891	NM_000546.6(TP53):c.158G>T (p.Trp53Leu)	TP53 (W14L +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1769035	NM_000546.6(TP53):c.1024C>G (p.Arg342Gly)	TP53 (R183G +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 1763670	NM_000546.6(TP53):c.850A>C (p.Thr284Pro)	TP53 (T284P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity OLikely oncogenic
Select item 1760888	NM_000546.6(TP53):c.784G>C (p.Gly262Arg)	TP53 (G130R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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