ClinVar for PubMed (Select 29979965) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893866	NM_000546.6(TP53):c.858A>C (p.Glu286Asp)	TP53 (E127D +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3809688	NM_000546.6(TP53):c.424C>G (p.Pro142Ala)	TP53 (P103A +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3809674	NM_000546.6(TP53):c.372C>G (p.Cys124Trp)	TP53 (C124W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3722647	NM_000546.6(TP53):c.419_427del (p.Thr140_Val143delinsMet)	TP53	Deletion (inframe_indel +2 more)	Li-Fraumeni syndrome	GPathogenic
Select item 3706400	NM_000546.6(TP53):c.190C>A (p.Pro64Thr)	TP53 (P25T +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3679774	NM_000546.6(TP53):c.1034A>G (p.Asn345Ser)	TP53 (N213S +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3673072	NM_000546.6(TP53):c.704A>T (p.Asn235Ile)	TP53 (N235I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3660962	NM_000546.6(TP53):c.415_432del (p.Lys139_Gln144del)	TP53	Deletion (5 prime UTR variant +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 3634440	NM_000546.6(TP53):c.61G>A (p.Asp21Asn)	TP53 (D21N)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634439	NM_000546.6(TP53):c.82G>A (p.Glu28Lys)	TP53 (E28K)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634438	NM_000546.6(TP53):c.88A>G (p.Asn30Asp)	TP53 (N30D)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634437	NM_000546.6(TP53):c.191C>T (p.Pro64Leu)	TP53 (P25L +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634436	NM_000546.6(TP53):c.217G>T (p.Val73Leu)	TP53 (V73L +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634435	NM_000546.6(TP53):c.275C>A (p.Pro92His)	TP53 (P53H +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634434	NM_000546.6(TP53):c.280T>A (p.Ser94Thr)	TP53 (S55T +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634433	NM_000546.6(TP53):c.335G>C (p.Gly112Ala)	TP53 (G112A +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634432	NM_000546.6(TP53):c.337T>C (p.Phe113Leu)	TP53 (F113L +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 3634430	NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)	TP53 (Y166S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634429	NM_000546.6(TP53):c.680C>T (p.Ser227Phe)	TP53 (S68F +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634428	NM_000546.6(TP53):c.730G>C (p.Gly244Arg)	TP53 (G112R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634427	NM_000546.6(TP53):c.775G>A (p.Asp259Asn)	TP53 (D220N +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634426	NM_000546.6(TP53):c.811G>C (p.Glu271Gln)	TP53 (E271Q +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634425	NM_000546.6(TP53):c.898C>T (p.Pro300Ser)	TP53 (P300S +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634424	NM_000546.6(TP53):c.911C>G (p.Thr304Ser)	TP53 (T304S +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634423	NM_000546.6(TP53):c.925C>A (p.Pro309Thr)	TP53 (P309T +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634422	NM_000546.6(TP53):c.1129A>T (p.Thr377Ser)	TP53 (T338S +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3634421	NM_000546.6(TP53):c.1178A>T (p.Asp393Val)	TP53 (D354V +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3619316	NM_000546.6(TP53):c.1178A>G (p.Asp393Gly)	TP53 (D234G +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3605186	NM_000546.6(TP53):c.43A>G (p.Ser15Gly)	TP53 (S15G)	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 3460339	NM_000546.6(TP53):c.635T>C (p.Phe212Ser)	TP53 (F53S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3460338	NM_000546.6(TP53):c.482_483delinsGA (p.Ala161Gly)	TP53 (A122G +3 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3460324	NM_000546.6(TP53):c.508A>T (p.Thr170Ser)	TP53 (T170S +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3460317	NM_000546.6(TP53):c.353C>G (p.Thr118Arg)	TP53 (T118R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3460304	NM_000546.6(TP53):c.612G>C (p.Glu204Asp)	TP53 (E72D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3460301	NM_000546.6(TP53):c.577C>A (p.His193Asn)	TP53 (H154N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3460300	NM_000546.6(TP53):c.130A>G (p.Met44Val)	TP53 (M44V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3460294	NM_000546.6(TP53):c.590T>C (p.Val197Ala)	TP53 (V158A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 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 +2 more	GConflicting classifications of pathogenicity
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 +1 more	GLikely pathogenic OLikely oncogenic
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 more	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)	Hereditary cancer-predisposing 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)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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	GLikely benignFDA Recognized database
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 +2 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)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2774654	NM_000546.6(TP53):c.190C>T (p.Pro64Ser)	TP53 (P25S +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 2774647	NM_000546.6(TP53):c.1064C>A (p.Ala355Asp)	TP53 (A196D +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome +1 more	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)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 +1 more	GConflicting classifications of pathogenicity
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 +1 more	GConflicting classifications of pathogenicity
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

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