"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 385946	NM_000546.6(TP53):c.*6T>A	TP53	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	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 benignFDA Recognized database
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 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 benignFDA 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 benignFDA Recognized database
Select item 183740	NM_000546.6(TP53):c.1149C>T (p.Leu383=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely 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 benignFDA 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 benignFDA 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)	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 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	GBenignFDA Recognized database
Select item 577458	NM_000546.6(TP53):c.1118A>G (p.Lys373Arg)	TP53 (K334R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 764087	NM_000546.6(TP53):c.1101-7C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome	GLikely benign
Select item 659571	NM_000546.6(TP53):c.1100+5G>A	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 818357	NM_000546.6(TP53):c.1089G>A (p.Arg363=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +1 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 230306	NM_000546.6(TP53):c.1079G>A (p.Gly360Glu)	TP53 (G228E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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
Select item 230534	NM_000546.6(TP53):c.1073A>T (p.Glu358Val)	TP53 (E226V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 234059	NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)	TP53 (G224R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benignFDA Recognized database
Select item 629928	NM_000546.6(TP53):c.1061A>G (p.Gln354Arg)	TP53 (Q354R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 231485	NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)	TP53 (Q222K +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GBenignFDA Recognized database
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 458512	NM_000546.6(TP53):c.1032G>C (p.Leu344=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +1 more	GLikely benign
Select item 233136	NM_000546.6(TP53):c.1025G>A (p.Arg342Gln)	TP53 (R210Q +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benignFDA Recognized database
Select item 3071734	NM_000546.6(TP53):c.1023C>A (p.Phe341Leu)	TP53 (F182L +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 220073	NM_000546.6(TP53):c.1023C>T (p.Phe341=)	TP53	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 141893	NM_000546.6(TP53):c.1015G>C (p.Glu339Gln)	TP53 (E207Q +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benignFDA Recognized database
Select item 482226	NM_000546.6(TP53):c.1014C>G (p.Phe338Leu)	TP53 (F206L +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182952	NM_000546.6(TP53):c.1014C>T (p.Phe338=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +5 more	GBenign/Likely benign
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 +17 more	GPathogenic/Likely pathogenic
Select item 480738	NM_000546.6(TP53):c.1004G>A (p.Arg335His)	TP53 (R296H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
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 significanceFDA 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)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142273	NM_000546.6(TP53):c.998G>A (p.Arg333His)	TP53 (R201H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benignFDA Recognized database
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 benignFDA Recognized database
Select item 3073589	NM_000546.6(TP53):c.994-5T>G	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 952204	NM_000546.6(TP53):c.988del (p.Leu330fs)	TP53 (L198fs +3 more)	Deletion (frameshift variant)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 1995393	NM_000546.6(TP53):c.987C>T (p.Thr329=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome	GLikely benign
Select item 652718	NM_000546.6(TP53):c.986C>T (p.Thr329Ile)	TP53 (T329I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 12367	NM_000546.6(TP53):c.974G>T (p.Gly325Val)	TP53 (G325V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 420950	NM_000546.6(TP53):c.970G>C (p.Asp324His)	TP53 (D192H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2093951	NM_000546.6(TP53):c.966A>G (p.Pro322=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome	GLikely benign
Select item 3071811	NM_000546.6(TP53):c.959A>C (p.Lys320Thr)	TP53 (K161T +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 492627	NM_000546.6(TP53):c.953C>T (p.Pro318Leu)	TP53 (P186L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 231008	NM_000546.6(TP53):c.949C>A (p.Gln317Lys)	TP53 (Q185K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benignFDA Recognized database
Select item 1172210	NM_000546.6(TP53):c.948C>G (p.Pro316=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 823268	NM_000546.6(TP53):c.946C>T (p.Pro316Ser)	TP53 (P277S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 387119	NM_000546.6(TP53):c.933C>T (p.Asn311=)	TP53	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 234067	NM_000546.6(TP53):c.930C>A (p.Asn310Lys)	TP53 (N178K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 458575	NM_000546.6(TP53):c.925C>T (p.Pro309Ser)	TP53 (P177S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 666137	NM_000546.6(TP53):c.920C>T (p.Ala307Val)	TP53 (A268V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 528278	NM_000546.6(TP53):c.920-4C>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 185487	NM_000546.6(TP53):c.920-5C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3072168	NM_000546.6(TP53):c.920-6T>G	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 528281	NM_000546.6(TP53):c.920-8T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome	GLikely benign
Select item 385882	NM_000546.6(TP53):c.920-13G>C	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 379596	NM_000546.6(TP53):c.920-14T>C	TP53	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 232468	NM_000546.6(TP53):c.919+3A>G	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2809879	NM_000546.6(TP53):c.919G>A (p.Ala307Thr)	TP53 (A148T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 458574	NM_000546.6(TP53):c.917G>A (p.Arg306Gln)	TP53 (R267Q +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 142332	NM_000546.6(TP53):c.907A>G (p.Ser303Gly)	TP53 (S171G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benignFDA Recognized database
Select item 141483	NM_000546.6(TP53):c.892G>A (p.Glu298Lys)	TP53 (E166K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenignFDA Recognized database
Select item 183849	NM_000546.6(TP53):c.891C>T (p.His297=)	TP53	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 420974	NM_000546.6(TP53):c.884C>T (p.Pro295Leu)	TP53 (P163L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 230208	NM_000546.6(TP53):c.877G>A (p.Gly293Arg)	TP53 (G161R +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 3386125	NM_000546.6(TP53):c.869_870insTGAGGAAGAGAATCTCCGC (p.Lys291fs)	TP53 (K132fs +3 more)	Insertion (frameshift variant +1 more)	Li-Fraumeni syndrome	GLikely pathogenic
Select item 1692474	NM_000546.6(TP53):c.870C>T (p.Arg290=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 216472	NM_000546.6(TP53):c.868C>T (p.Arg290Cys)	TP53 (R158C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benignFDA Recognized database
Select item 822635	NM_000546.6(TP53):c.865C>T (p.Leu289Phe)	TP53 (L289F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 492625	NM_000546.6(TP53):c.855G>A (p.Glu285=)	TP53	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 186509	NM_000546.6(TP53):c.852A>C (p.Thr284=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
Select item 964952	NM_000546.6(TP53):c.850A>G (p.Thr284Ala)	TP53 (T152A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 458571	NM_000546.6(TP53):c.850A>T (p.Thr284Ser)	TP53 (T245S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1457232	NM_000546.6(TP53):c.847dup (p.Arg283fs)	TP53 (R244fs +3 more)	Duplication (frameshift variant)	Li-Fraumeni syndrome	GPathogenic
Select item 142324	NM_000546.6(TP53):c.848G>A (p.Arg283His)	TP53 (R151H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +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 breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
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 389164	NM_000546.6(TP53):c.831T>C (p.Cys277=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome 1 +3 more	GLikely benign
Select item 458567	NM_000546.6(TP53):c.830G>T (p.Cys277Phe)	TP53 (C238F +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)	Li-Fraumeni syndrome +3 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	GPathogenicFDA Recognized database OOncogenic
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 significanceFDA Recognized database
Select item 141764	NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	TP53 (R135W +3 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +14 more	GPathogenic/Likely pathogenic
Select item 161516	NM_000546.6(TP53):c.797G>A (p.Gly266Glu)	TP53 (G134E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 428889	NM_000546.6(TP53):c.785G>T (p.Gly262Val)	TP53 (G130V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance OUncertain significance
Select item 746587	NM_000546.6(TP53):c.783-10T>C	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 492613	NM_000546.6(TP53):c.783-11A>G	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +3 more	GBenign/Likely benign
Select item 515187	NM_000546.6(TP53):c.782+6G>A	TP53	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 565601	NM_000546.6(TP53):c.782+3C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3073998	NM_000546.6(TP53):c.754_765del (p.Leu252_Ile255del)	TP53	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome	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 benignFDA Recognized database
Select item 528254	NM_000546.6(TP53):c.752T>A (p.Ile251Asn)	TP53 (I251N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
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	GPathogenicFDA Recognized database OOncogenic
Select item 185778	NM_000546.6(TP53):c.741C>T (p.Asn247=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +2 more	GLikely benign

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