TP53[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 150702	GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3	ATP1B2, CD68 +36 more	Copy number gain	See cases	GUncertain significance
Select item 523161	GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1	ATP1B2, DNAH2 +17 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
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 1294447	NC_000017.11:g.7668134G>A	TP53	Single nucleotide variant	not provided	GBenign
Select item 1170064	NC_000017.11:g.7668174_7668179dup	TP53	Duplication	Li-Fraumeni syndrome +3 more	GBenign
Select item 3045221	NC_000017.11:g.7668194C>T	TP53	Single nucleotide variant	TP53-related disorder	GLikely benign
Select item 3054491	NC_000017.11:g.7668195G>A	TP53	Single nucleotide variant	TP53-related disorder	GLikely benign
Select item 437018	NM_000546.5(TP53):c.2588dup	TP53	Duplication	Li-Fraumeni syndrome	GPathogenic
Select item 369233	NM_001126113.2(TP53):c.*1422G>C	TP53	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 417387	NC_000017.11:g.(?_7668402)_(7669690_?)del	TP53	Deletion	Li-Fraumeni syndrome	GLikely pathogenic
Select item 237937	NM_000546.5(TP53):c.-202_*1207del	LOC130060172, LOC126862483 +3 more	Deletion	Li-Fraumeni syndrome	GPathogenic
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 3051986	NM_000546.6(TP53):c.*1169A>G	TP53	Single nucleotide variant (3 prime UTR variant +1 more)	TP53-related disorder	GLikely benign
Select item 325619	NM_000546.6(TP53):c.*1160T>G	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 889286	NM_000546.6(TP53):c.*1132C>T	TP53	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325620	NM_000546.6(TP53):c.*1070C>T	TP53	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 325621	NM_000546.6(TP53):c.*977G>C	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 325622	NM_000546.6(TP53):c.*936A>G	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GLikely benign
Select item 325623	NM_000546.6(TP53):c.*826G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1 +2 more	GBenign
Select item 325624	NM_000546.6(TP53):c.*806C>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 325625	NM_000546.6(TP53):c.*790G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325626	NM_000546.6(TP53):c.*779del	TP53	Deletion (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 325627	NM_000546.6(TP53):c.*773C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GBenign
Select item 325628	NM_000546.6(TP53):c.*772del	TP53	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 889967	NM_000546.6(TP53):c.*761T>C	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 889968	NM_000546.6(TP53):c.*760T>C	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325629	NM_000546.6(TP53):c.*754C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325630	NM_000546.6(TP53):c.*747C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 325631	NM_000546.6(TP53):c.*735C>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 325632	NM_000546.6(TP53):c.*626C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325633	NM_000546.6(TP53):c.*613C>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GBenign
Select item 325634	NM_000546.6(TP53):c.569_570del	TP53	Deletion (3 prime UTR variant)	Li-Fraumeni syndrome	GLikely benign
Select item 325635	NM_000546.6(TP53):c.*565G>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 325636	NM_000546.6(TP53):c.*548G>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 325637	NM_000546.6(TP53):c.*485G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1 +2 more	GBenign
Select item 891532	NM_000546.6(TP53):c.*409C>A	TP53	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 325638	NM_000546.6(TP53):c.*382C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 891533	NM_000546.6(TP53):c.*357T>C	TP53	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 325639	NM_000546.6(TP53):c.*347T>C	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 325640	NM_000546.6(TP53):c.*346G>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 891534	NM_000546.6(TP53):c.*328G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GBenign
Select item 325641	NM_000546.6(TP53):c.*327C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325642	NM_000546.6(TP53):c.*205G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1 +1 more	GBenign
Select item 891535	NM_000546.6(TP53):c.*168C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 891780	NM_000546.6(TP53):c.*144G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325643	NM_000546.6(TP53):c.*99G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 1174011	NM_000546.6(TP53):c.-19_*21del (p.Met1fs)	TP53 (M1fs)	Deletion (frameshift variant +3 more)	B-cell chronic lymphocytic leukemia	GPathogenic
Select item 245980	NM_000546.6(TP53):c.*16G>T	TP53	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 384516	NM_000546.6(TP53):c.*15T>C	TP53	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 380960	NM_000546.6(TP53):c.*13C>T	TP53	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1321428	NM_000546.6(TP53):c.6_9dup	TP53	Duplication (3 prime UTR variant)	not specified	GUncertain significance
Select item 659585	NC_000017.11:g.(?_7669599)_(7688293_?)del	LOC126862483, LOC130060171 +3 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060207, LOC130060208 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 646390	NC_000017.10:g.(?_7572917)_(7579922_?)dup	TP53	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 583792	NC_000017.11:g.(?_7669599)_(7676604_?)del	TP53	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 528285	NC_000017.10:g.(?_7572921)_(7579918_?)dup	TP53	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 528283	NC_000017.11:g.(?_7669603)_(7676600_?)del	TP53	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC130060232, LOC130060233 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 458511	NC_000017.11:g.(?_7669603)_(7670721_?)del	TP53	Deletion	Li-Fraumeni syndrome	GLikely pathogenic
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 1742467	NM_000546.6(TP53):c.1182A>G (p.Ter394Trp)	TP53	Single nucleotide variant (stop lost +1 more)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 1509856	NM_000546.6(TP53):c.1111_1181dup (p.Ter394CysextTer?)	TP53	Duplication (frameshift variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 458524	NM_000546.6(TP53):c.1182A>T (p.Ter394Cys)	TP53	Single nucleotide variant (stop lost +1 more)	Li-Fraumeni syndrome	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 1384056	NM_000546.6(TP53):c.1180T>C (p.Ter394Arg)	TP53	Single nucleotide variant (3 prime UTR variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 639571	NM_000546.6(TP53):c.1180T>A (p.Ter394Arg)	TP53	Single nucleotide variant (stop lost +1 more)	Li-Fraumeni 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 1559869	NM_000546.6(TP53):c.1179C>T (p.Asp393=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome	GLikely benign
Select item 1026463	NM_000546.6(TP53):c.1179C>G (p.Asp393Glu)	TP53 (D234E +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2430282	NM_000546.6(TP53):c.1176_1177insAGAA (p.Asp393fs)	TP53 (D234fs +3 more)	Insertion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance
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 1002444	NM_000546.6(TP53):c.1176_1177insCCCTGGGGCGACTCTCAGGTGAGCACCACCCCCACACAGAGCTGCTCAGCTACTCAGACCGCGCATTCTGCAAATGCAGGCTCTGGAACGTTGGAGGCTATNNNNNNNNNNAAAAAAAAAAGAAGGGCCTGACTCA (p.Asp393delinsProTrpGlyAspSerGlnValSerThrThrProThrGlnSerCysSerAlaThrGlnThrAlaHisSerAlaAsnAlaGlySerGlyThrLeuGluAlaXaaXaaXaaXaaLysLysLysArgArgAlaTer)	TP53	Insertion (nonsense +1 more)	Li-Fraumeni 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 (3 prime UTR variant +1 more)	Hereditary cancer-predisposing 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

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