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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35555	NM_000546.6(TP53):c.*1175A>C	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1742467	NM_000546.6(TP53):c.1182A>G (p.Ter394Trp)	TP53	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3232050	NM_000546.6(TP53):c.1181G>T (p.Ter394Leu)	TP53	Single nucleotide variant (stop lost +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 485043	NM_000546.6(TP53):c.1180T>G (p.Ter394Gly)	TP53	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 428888	NM_000546.6(TP53):c.1179dup (p.Ter394LeuextTer?)	TP53	Duplication (frameshift variant +2 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1026463	NM_000546.6(TP53):c.1179C>G (p.Asp393Glu)	TP53 (D234E +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1741120	NM_000546.6(TP53):c.1177G>T (p.Asp393Tyr)	TP53 (D234Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1740801	NM_000546.6(TP53):c.1176dup (p.Asp393fs)	TP53 (D234fs +3 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818502	NM_000546.6(TP53):c.1177G>C (p.Asp393His)	TP53 (D234H +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 492574	NM_000546.6(TP53):c.1177G>A (p.Asp393Asn)	TP53 (D261N +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 458523	NM_000546.6(TP53):c.1177del (p.Asp393fs)	TP53 (D234fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome +2 more	GUncertain significance
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 818485	NM_000546.6(TP53):c.1168C>A (p.Pro390Thr)	TP53 (P351T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 458522	NM_000546.6(TP53):c.1165G>A (p.Gly389Arg)	TP53 (G389R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1737684	NM_000546.6(TP53):c.1164A>T (p.Glu388Asp)	TP53 (E229D +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 141425	NM_000546.6(TP53):c.1163A>C (p.Glu388Ala)	TP53 (E256A +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 1737291	NM_000546.6(TP53):c.1162G>C (p.Glu388Gln)	TP53 (E229Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 428878	NM_000546.6(TP53):c.1161A>G (p.Thr387=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 485050	NM_000546.6(TP53):c.1160C>G (p.Thr387Arg)	TP53 (T348R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2585882	NM_000546.6(TP53):c.1159A>C (p.Thr387Pro)	TP53 (T255P +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 818446	NM_000546.6(TP53):c.1157A>G (p.Lys386Arg)	TP53 (K347R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1735146	NM_000546.6(TP53):c.1155C>T (p.Phe385=)	TP53	Single nucleotide variant (synonymous variant +2 more)	Li-Fraumeni syndrome +1 more	GLikely benign
Select item 1735082	NM_000546.6(TP53):c.1155C>A (p.Phe385Leu)	TP53 (F346L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 485029	NM_000546.6(TP53):c.1153T>C (p.Phe385Leu)	TP53 (F385L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 639734	NM_000546.6(TP53):c.1152G>A (p.Met384Ile)	TP53 (M225I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 406575	NM_000546.6(TP53):c.1151T>C (p.Met384Thr)	TP53 (M252T +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 182939	NM_000546.6(TP53):c.1150A>G (p.Met384Val)	TP53 (M252V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 1732975	NM_000546.6(TP53):c.1148_1149del (p.Leu383fs)	TP53 (L251fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 482224	NM_000546.6(TP53):c.1149C>A (p.Leu383=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
Select item 183740	NM_000546.6(TP53):c.1149C>T (p.Leu383=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Squamous cell carcinoma of the head and neck +4 more	GBenign/Likely benign
Select item 3232048	NM_000546.6(TP53):c.1148T>C (p.Leu383Pro)	TP53 (L224P +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 619733	NM_000546.6(TP53):c.1147C>T (p.Leu383Phe)	TP53 (L251F +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1408583	NM_000546.6(TP53):c.1146del (p.Lys382fs)	TP53 (K223fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 569582	NM_000546.6(TP53):c.1146A>G (p.Lys382=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1732327	NM_000546.6(TP53):c.1145A>T (p.Lys382Ile)	TP53 (K250I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	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)	Li-Fraumeni syndrome +2 more	GUncertain significance
Select item 428872	NM_000546.6(TP53):c.1139del (p.His380fs)	TP53 (H341fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185679	NM_000546.6(TP53):c.1137C>T (p.Arg379=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 246221	NM_000546.6(TP53):c.1136G>A (p.Arg379His)	TP53 (R247H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 216463	NM_000546.6(TP53):c.1136G>T (p.Arg379Leu)	TP53 (R247L +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 186762	NM_000546.6(TP53):c.1135C>A (p.Arg379Ser)	TP53 (R247S +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 186611	NM_000546.6(TP53):c.1135C>T (p.Arg379Cys)	TP53 (R247C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 480749	NM_000546.6(TP53):c.1133C>G (p.Ser378Cys)	TP53 (S246C +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 745265	NM_000546.6(TP53):c.1131C>T (p.Thr377=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +3 more	GLikely benign
Select item 511854	NM_000546.6(TP53):c.1131C>A (p.Thr377=)	TP53	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 822222	NM_000546.6(TP53):c.1130C>T (p.Thr377Ile)	TP53 (T377I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1799016	NM_000546.6(TP53):c.1125G>T (p.Gln375His)	TP53 (Q243H +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798385	NM_000546.6(TP53):c.1123C>A (p.Gln375Lys)	TP53 (Q216K +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 480739	NM_000546.6(TP53):c.1123C>T (p.Gln375Ter)	TP53 (Q243* +3 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome 1 +2 more	GUncertain significance
Select item 1797938	NM_000546.6(TP53):c.1121G>T (p.Gly374Val)	TP53 (G242V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 665996	NM_000546.6(TP53):c.1120G>T (p.Gly374Cys)	TP53 (G215C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 230269	NM_000546.6(TP53):c.1120G>C (p.Gly374Arg)	TP53 (G242R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GBenign FDA Recognized database
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 3328167	NM_000546.6(TP53):c.1119G>C (p.Lys373Asn)	TP53 (K334N +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 628429	NM_000546.6(TP53):c.1119G>A (p.Lys373=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 577458	NM_000546.6(TP53):c.1118A>G (p.Lys373Arg)	TP53 (K334R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 230970	NM_000546.6(TP53):c.1115A>G (p.Lys372Arg)	TP53 (K240R +3 more)	Single nucleotide variant (missense variant +1 more)	TP53-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1482750	NM_000546.6(TP53):c.1112C>A (p.Ser371Tyr)	TP53 (S239Y +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1794493	NM_000546.6(TP53):c.1109A>T (p.Lys370Met)	TP53 (K370M +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1510904	NM_000546.6(TP53):c.1109A>C (p.Lys370Thr)	TP53 (K211T +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 822173	NM_000546.6(TP53):c.1101-83_1106del	TP53	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 657014	NM_000546.6(TP53):c.1104C>A (p.His368Gln)	TP53 (H329Q +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485042	NM_000546.6(TP53):c.1104C>T (p.His368=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
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 188342	NM_000546.6(TP53):c.1102C>T (p.His368Tyr)	TP53 (H236Y +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 1792483	NM_000546.6(TP53):c.1101C>T (p.Ser367=)	TP53	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 231146	NM_000546.6(TP53):c.1101-1G>A	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 141332	NM_000546.6(TP53):c.1101-2A>G	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 381768	NM_000546.6(TP53):c.1101-3C>T	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1792386	NM_000546.6(TP53):c.1101-4A>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 810938	NM_000546.6(TP53):c.1100+30A>T	TP53	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 3328164	NM_000546.6(TP53):c.1100+1_1100+14del	TP53	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142381	NM_000546.6(TP53):c.1100+13A>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2774645	NM_000546.6(TP53):c.1100+4A>T	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1046409	NM_000546.6(TP53):c.1100+3G>A	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 2624680	NM_000546.6(TP53):c.1100+2T>C	TP53	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231953	NM_000546.6(TP53):c.1099A>G (p.Ser367Gly)	TP53 (S235G +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GUncertain significance
Select item 2565396	NM_000546.6(TP53):c.1097C>T (p.Ser366Phe)	TP53 (S327F +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 927316	NM_000546.6(TP53):c.1097C>G (p.Ser366Cys)	TP53 (S234C +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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	GBenign FDA Recognized database
Select item 1790091	NM_000546.6(TP53):c.1094A>C (p.His365Pro)	TP53 (H233P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 80708	NM_000546.6(TP53):c.1093C>T (p.His365Tyr)	TP53 (H233Y +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 568955	NM_000546.6(TP53):c.1091C>T (p.Ala364Val)	TP53 (A364V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GUncertain significance
Select item 848951	NM_000546.6(TP53):c.1090G>T (p.Ala364Ser)	TP53 (A205S +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 818357	NM_000546.6(TP53):c.1089G>A (p.Arg363=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 233244	NM_000546.6(TP53):c.1088G>A (p.Arg363Lys)	TP53 (R231K +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 188151	NM_000546.6(TP53):c.1087A>G (p.Arg363Gly)	TP53 (R231G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 485048	NM_000546.6(TP53):c.1085G>T (p.Ser362Ile)	TP53 (S323I +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 458516	NM_000546.6(TP53):c.1085G>A (p.Ser362Asn)	TP53 (S230N +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1958595	NM_000546.6(TP53):c.1083G>T (p.Gly361=)	TP53	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 256601	NM_000546.6(TP53):c.1083G>A (p.Gly361=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +3 more	GLikely benign
Select item 141331	NM_000546.6(TP53):c.1082G>A (p.Gly361Glu)	TP53 (G229E +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1961562	NM_000546.6(TP53):c.1081G>A (p.Gly361Arg)	TP53 (G361R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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)	Li-Fraumeni syndrome +3 more	GUncertain significance
Select item 230306	NM_000546.6(TP53):c.1079G>A (p.Gly360Glu)	TP53 (G228E +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +3 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)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
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	GBenign FDA Recognized database
Select item 1785528	NM_000546.6(TP53):c.1078G>C (p.Gly360Arg)	TP53 (G360R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 480753	NM_000546.6(TP53):c.1078G>T (p.Gly360Trp)	TP53 (G321W +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186887	NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)	TP53 (G228R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity

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