"Color Diagnostics, LLC DBA Color Health"[submitter] AND "TP53"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 647

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 925574	NC_000017.11:g.7667874G>C	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 926695	NC_000017.11:g.7667880G>A	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 925707	NC_000017.11:g.7667888G>A	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 920680	NC_000017.11:g.7667899A>C	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 927570	NC_000017.11:g.7667901C>T	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 921740	NC_000017.11:g.7667904C>T	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 925434	NC_000017.11:g.7667906C>T	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 919907	NC_000017.11:g.7667906C>A	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 490169	NM_000546.5(TP53):c.*1701G>T	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GBenign
Select item 925896	NC_000017.11:g.7667909C>T	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 919110	NC_000017.11:g.7667910C>A	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 924923	NC_000017.11:g.7667914C>T	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 925771	NC_000017.11:g.7667923T>G	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 927304	NC_000017.11:g.7667926C>T	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 920533	NC_000017.11:g.7667929C>T	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 927401	NC_000017.11:g.7667933C>T	TP53	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 385946	NM_000546.6(TP53):c.*6T>A	TP53	Single nucleotide variant (3 prime UTR variant)	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 1 +2 more	GConflicting classifications of pathogenicity
Select item 629063	NM_000546.6(TP53):c.1173C>G (p.Asp391Glu)	TP53 (D391E +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 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 183740	NM_000546.6(TP53):c.1149C>T (p.Leu383=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +4 more	GBenign/Likely benign
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 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 492573	NM_000546.6(TP53):c.1127C>T (p.Ser376Phe)	TP53 (S244F +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 629927	NM_000546.6(TP53):c.1125G>A (p.Gln375=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
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	GLikely benign 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)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 839498	NM_000546.6(TP53):c.1119G>T (p.Lys373Asn)	TP53 (K334N +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	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 1 +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 919471	NM_000546.6(TP53):c.1113C>T (p.Ser371=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 628982	NM_000546.6(TP53):c.1110G>A (p.Lys370=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 919211	NM_000546.6(TP53):c.1102C>A (p.His368Asn)	TP53 (H329N +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GUncertain significance
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 381768	NM_000546.6(TP53):c.1101-3C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1171172	NM_000546.6(TP53):c.1101-13C>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 918307	NM_000546.6(TP53):c.1101-13C>T	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 924682	NM_000546.6(TP53):c.1100+20T>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 492571	NM_000546.6(TP53):c.1100+15C>T	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 631104	NM_000546.6(TP53):c.1100+12C>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 237939	NM_000546.6(TP53):c.1100+8A>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 2774645	NM_000546.6(TP53):c.1100+4A>T	TP53	Single nucleotide variant (intron variant)	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	GLikely benign FDA Recognized database
Select item 1121868	NM_000546.6(TP53):c.1095C>T (p.His365=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +1 more	GLikely benign
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 1 +2 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)	Adrenocortical carcinoma, hereditary +3 more	GUncertain significance
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	GLikely benign FDA Recognized database
Select item 186887	NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)	TP53 (G228R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 492570	NM_000546.6(TP53):c.1077A>G (p.Pro359=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1171953	NM_000546.6(TP53):c.1076C>G (p.Pro359Arg)	TP53 (P200R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 230534	NM_000546.6(TP53):c.1073A>T (p.Glu358Val)	TP53 (E226V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2774646	NM_000546.6(TP53):c.1066G>A (p.Gly356Arg)	TP53 (G197R +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	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 1	GLikely benign FDA Recognized database
Select item 2774647	NM_000546.6(TP53):c.1064C>A (p.Ala355Asp)	TP53 (A196D +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 528241	NM_000546.6(TP53):c.1064C>T (p.Ala355Val)	TP53 (A355V +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +3 more	GConflicting classifications of pathogenicity
Select item 482215	NM_000546.6(TP53):c.1062G>A (p.Gln354=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 +2 more	GUncertain significance
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 1	GLikely benign FDA 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 1698604	NM_000546.6(TP53):c.1028del (p.Glu343fs)	TP53 (E184fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome +1 more	GPathogenic/Likely pathogenic
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 1	GLikely benign FDA Recognized database
Select item 182970	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53 (R210* +3 more)	Single nucleotide variant (nonsense +1 more)	Adrenocortical carcinoma, hereditary +14 more	GPathogenic
Select item 220073	NM_000546.6(TP53):c.1023C>T (p.Phe341=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 142846	NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)	TP53 (E207K +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +5 more	GConflicting classifications of pathogenicity
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 benign FDA 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)	Hereditary cancer-predisposing 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)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 628432	NM_000546.6(TP53):c.1013T>G (p.Phe338Cys)	TP53 (F206C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 177879	NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)	TP53 (R205P +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GLikely pathogenic
Select item 12379	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53 (R337H +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +17 more	GPathogenic/Likely pathogenic
Select item 142536	NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	TP53 (R205C +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +4 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)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 significance FDA Recognized database
Select item 428876	NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)	TP53 (G202W +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +1 more	GLikely pathogenic
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 benign FDA 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 benign FDA Recognized database
Select item 798976	NM_000546.6(TP53):c.996C>T (p.Ile332=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +3 more	GLikely benign
Select item 385783	NM_000546.6(TP53):c.994-12C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
Select item 182951	NM_000546.6(TP53):c.994-17C>T	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 182950	NM_000546.6(TP53):c.993+326_993+341del	TP53	Deletion (intron variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 927924	NM_000546.6(TP53):c.993+330_993+331insTCT	TP53	Insertion (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 628372	NM_000546.6(TP53):c.993+331A>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 631028	NM_000546.6(TP53):c.993+318T>C	TP53	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 627761	NM_000546.6(TP53):c.993+317G>A	TP53	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 627874	NM_000546.6(TP53):c.993+314dup	TP53	Duplication (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 492651	NM_000546.6(TP53):c.993+313G>A	TP53	Single nucleotide variant (synonymous variant +2 more)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
Select item 492650	NM_000546.6(TP53):c.993+312C>T	TP53 (S214L +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome 1 +3 more	GLikely benign
Select item 629929	NM_000546.6(TP53):c.993+310G>T	TP53	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 492649	NM_000546.6(TP53):c.993+310G>A	TP53	Single nucleotide variant (synonymous variant +2 more)	Li-Fraumeni syndrome 1 +4 more	GLikely benign
Select item 492648	NM_000546.6(TP53):c.993+309C>T	TP53 (S213L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 7