TP53[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 4370181.	NM_000546.5(TP53):c.2588dup GRCh37: Chr17:7571520-7571521 GRCh38: Chr17:7668202-7668203	TP53		Li-Fraumeni syndrome	Pathogenic (May 18, 2017)	criteria provided, single submitter
Select item 4173872.	NC_000017.11:g.(?_7668402)_(7669690_?)del GRCh37: Chr17:7571720-7573008 GRCh38: Chr17:7668402-7669690	TP53		Li-Fraumeni syndrome	Likely pathogenic (Jun 4, 2016)	criteria provided, single submitter
Select item 11740113.	NM_000546.6(TP53):c.-19_*21del (p.Met1fs) GRCh37: Chr17:7572906-7579931 GRCh38: Chr17:7669588-7676613	TP53	M1fs	B-cell chronic lymphocytic leukemia	Pathogenic (Mar 19, 2021)	no assertion criteria provided
Select item 5837924.	NC_000017.11:g.(?_7669599)_(7676604_?)del GRCh37: Chr17:7572917-7579922 GRCh38: Chr17:7669599-7676604	TP53		Li-Fraumeni syndrome	Pathogenic (Jan 14, 2019)	criteria provided, single submitter
Select item 5282835.	NC_000017.11:g.(?_7669603)_(7676600_?)del GRCh37: Chr17:7572921-7579918 GRCh38: Chr17:7669603-7676600	TP53		Li-Fraumeni syndrome	Pathogenic (Aug 14, 2017)	criteria provided, single submitter
Select item 4585116.	NC_000017.11:g.(?_7669603)_(7670721_?)del GRCh37: Chr17:7572921-7574039 GRCh38: Chr17:7669603-7670721	TP53		Li-Fraumeni syndrome	Likely pathogenic (Feb 15, 2017)	criteria provided, single submitter
Select item 1829567.	NM_000546.6(TP53):c.1125del (p.Gln375fs) GRCh37: Chr17:7572984 GRCh38: Chr17:7669666	TP53	Q243fs, Q216fs, Q375fs, Q336fs	not provided	Pathogenic (Mar 23, 2015)	criteria provided, single submitter
Select item 2311468.	NM_000546.6(TP53):c.1101-1G>A GRCh37: Chr17:7573009 GRCh38: Chr17:7669691	TP53		Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Jul 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1413329.	NM_000546.6(TP53):c.1101-2A>G GRCh37: Chr17:7573010 GRCh38: Chr17:7669692	TP53		Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152525510.	NM_000546.6(TP53):c.1100+2T>A GRCh37: Chr17:7573925 GRCh38: Chr17:7670607	TP53		Li-Fraumeni syndrome	Likely pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 54985611.	NM_000546.6(TP53):c.1083del (p.Ser362fs) GRCh37: Chr17:7573944 GRCh38: Chr17:7670626	TP53	S323fs, S362fs, S230fs, S203fs	Bone marrow failure syndrome 5	Pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 54985512.	NM_000546.6(TP53):c.1077del (p.Ser362fs) GRCh37: Chr17:7573950 GRCh38: Chr17:7670632	TP53	S323fs, S362fs, S203fs, S230fs	Bone marrow failure syndrome 5	Pathogenic	criteria provided, single submitter
Select item 45851413.	NM_000546.6(TP53):c.1060C>T (p.Gln354Ter) GRCh37: Chr17:7573967 GRCh38: Chr17:7670649	TP53	Q354, Q222, Q315, Q195	Li-Fraumeni syndrome	Likely pathogenic (Aug 9, 2021)	criteria provided, single submitter
Select item 150568614.	NM_000546.6(TP53):c.1046_1055del (p.Glu349fs) GRCh37: Chr17:7573972-7573981 GRCh38: Chr17:7670654-7670663	TP53	E190fs, E217fs, E310fs, E349fs	Li-Fraumeni syndrome	Likely pathogenic (Aug 9, 2021)	criteria provided, single submitter
Select item 150574415.	NM_000546.6(TP53):c.1054del (p.Asp352fs) GRCh37: Chr17:7573973 GRCh38: Chr17:7670655	TP53	D220fs, D313fs, D352fs, D193fs	Li-Fraumeni syndrome	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 106620716.	NM_000546.6(TP53):c.1052del (p.Lys351fs) GRCh37: Chr17:7573975 GRCh38: Chr17:7670657	TP53	K192fs, K219fs, K312fs, K351fs	Li-Fraumeni syndrome	Likely pathogenic (Aug 3, 2020)	criteria provided, single submitter
Select item 243109117.	NM_000546.6(TP53):c.1051A>T (p.Lys351Ter) GRCh37: Chr17:7573976 GRCh38: Chr17:7670658	TP53	K192, K219, K312, K351	Lung adenocarcinoma	Pathogenic (Jun 6, 2022)	criteria provided, single submitter
Select item 57668118.	NM_000546.6(TP53):c.1043_1051delinsG (p.Leu348_Lys351delinsTer) GRCh37: Chr17:7573976-7573984 GRCh38: Chr17:7670658-7670666	TP53		Li-Fraumeni syndrome	Pathogenic (Feb 4, 2018)	criteria provided, single submitter
Select item 42886419.	NM_000546.6(TP53):c.1049_1050del (p.Leu350fs) GRCh37: Chr17:7573977-7573978 GRCh38: Chr17:7670659-7670660	TP53	L191fs, L311fs, L350fs, L218fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 21, 2019)	criteria provided, single submitter
Select item 63469520.	NM_000546.6(TP53):c.1045G>T (p.Glu349Ter) GRCh37: Chr17:7573982 GRCh38: Chr17:7670664	TP53	E217, E310, E349, E190	Li-Fraumeni syndrome, not provided	Pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106693021.	NM_000546.6(TP53):c.1043del (p.Leu348fs) GRCh37: Chr17:7573984 GRCh38: Chr17:7670666	TP53	L189fs, L216fs, L309fs, L348fs	Li-Fraumeni syndrome	Likely pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 4358722.	NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) GRCh37: Chr17:7573987 GRCh38: Chr17:7670669	TP53	A215D, A308D, A347D, A188D	Li-Fraumeni syndrome	Likely pathogenic (Mar 18, 2022)	reviewed by expert panel FDA Recognized Database
Select item 63469723.	NM_000546.6(TP53):c.1036G>T (p.Glu346Ter) GRCh37: Chr17:7573991 GRCh38: Chr17:7670673	TP53	E214, E307, E346, E187	Li-Fraumeni syndrome	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 63469324.	NM_000546.6(TP53):c.1036del (p.Glu346fs) GRCh37: Chr17:7573991 GRCh38: Chr17:7670673	TP53	E187fs, E346fs, E214fs, E307fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 63475125.	NM_000546.6(TP53):c.1027_1034del (p.Arg342_Glu343insTer) GRCh37: Chr17:7573993-7574000 GRCh38: Chr17:7670675-7670682	TP53		Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 1237526.	NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) GRCh37: Chr17:7573996 GRCh38: Chr17:7670678	TP53	L344P, L212P, L305P, L185P	Li-Fraumeni syndrome	Likely pathogenic (Aug 28, 2019)	reviewed by expert panel FDA Recognized Database
Select item 169860427.	NM_000546.6(TP53):c.1028del (p.Glu343fs) GRCh37: Chr17:7573999 GRCh38: Chr17:7670681	TP53	E184fs, E211fs, E304fs, E343fs	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81826028.	NM_000546.6(TP53):c.1019_1028del (p.Met340fs) GRCh37: Chr17:7573999-7574008 GRCh38: Chr17:7670681-7670690	TP53	M340fs, M181fs, M208fs, M301fs	Hereditary cancer-predisposing syndrome	Pathogenic (May 31, 2019)	criteria provided, single submitter
Select item 21599629.	NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) GRCh37: Chr17:7574002 GRCh38: Chr17:7670684	TP53	R210P, R303P, R342P, R183P	Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42888530.	NM_000546.6(TP53):c.1024del (p.Arg342fs) GRCh37: Chr17:7574003 GRCh38: Chr17:7670685	TP53	R183fs, R303fs, R342fs, R210fs	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18297031.	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) GRCh37: Chr17:7574003 GRCh38: Chr17:7670685	TP53	R210, R303, R342, R183	Glioma susceptibility 1, Li-Fraumeni syndrome 1, Basal cell carcinoma, susceptibility to, 7, Adrenocortical carcinoma, hereditary, Bone osteosarcoma, Nasopharyngeal carcinoma, Carcinoma of pancreas, Hepatocellular carcinoma, Familial cancer of breast, Colorectal cancer, Choroid plexus papillomaBone marrow failure syndrome 5, Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, ...see more	Pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97178132.	NM_000546.6(TP53):c.1021delinsGAA (p.Phe341fs) GRCh37: Chr17:7574006 GRCh38: Chr17:7670688	TP53	F209fs, F341fs, F182fs, F302fs	Li-Fraumeni syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 42886133.	NM_000546.6(TP53):c.1018del (p.Met340fs) GRCh37: Chr17:7574009 GRCh38: Chr17:7670691	TP53	M340fs, M181fs, M208fs, M301fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 8, 2011)	criteria provided, single submitter
Select item 107295834.	NM_000546.6(TP53):c.1014dup (p.Glu339fs) GRCh37: Chr17:7574012-7574013 GRCh38: Chr17:7670694-7670695	TP53	E180fs, E207fs, E300fs, E339fs	Li-Fraumeni syndrome	Pathogenic (Oct 5, 2020)	criteria provided, single submitter
Select item 63467635.	NM_000546.6(TP53):c.1014_1015insT (p.Glu339Ter) GRCh37: Chr17:7574012-7574013 GRCh38: Chr17:7670694-7670695	TP53	E207, E180, E300, E339	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 43870836.	NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) GRCh37: Chr17:7574012 GRCh38: Chr17:7670694	TP53	E207, E300, E339, E180	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 42890637.	NM_000546.6(TP53):c.1010_1011del (p.Arg337fs) GRCh37: Chr17:7574016-7574017 GRCh38: Chr17:7670698-7670699	TP53	R298fs, R178fs, R205fs, R337fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 25, 2016)	criteria provided, single submitter
Select item 17787938.	NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) GRCh37: Chr17:7574017 GRCh38: Chr17:7670699	TP53	R205P, R298P, R337P, R178P	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14282839.	NM_000546.6(TP53):c.1010G>T (p.Arg337Leu) GRCh37: Chr17:7574017 GRCh38: Chr17:7670699	TP53	R205L, R298L, R337L, R178L	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Familial cancer of breast	Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1237940.	NM_000546.6(TP53):c.1010G>A (p.Arg337His) GRCh37: Chr17:7574017 GRCh38: Chr17:7670699	TP53	R337H, R205H, R298H, R178H	Glioma susceptibility 1, Adrenocortical carcinoma, hereditary, Nasopharyngeal carcinoma, Bone osteosarcoma, Colorectal cancer, Familial cancer of breast, Bone marrow failure syndrome 5, Hepatocellular carcinoma, Basal cell carcinoma, susceptibility to, 7, Carcinoma of pancreas, Choroid plexus papillomaLi-Fraumeni syndrome 1, Breast neoplasm, Hereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck, See cases, ...see more	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14253641.	NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) GRCh37: Chr17:7574018 GRCh38: Chr17:7670700	TP53	R205C, R298C, R337C, R178C	Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63478042.	NM_000546.6(TP53):c.994-22_1003del GRCh37: Chr17:7574024-7574055 GRCh38: Chr17:7670706-7670737	TP53		Neoplasm of ovary	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 42887643.	NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) GRCh37: Chr17:7574027 GRCh38: Chr17:7670709	TP53	G202W, G295W, G334W, G175W	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211365144.	NM_000546.6(TP53):c.997del (p.Arg333fs) GRCh37: Chr17:7574030 GRCh38: Chr17:7670712	TP53	R201fs, R294fs, R333fs, R174fs	Li-Fraumeni syndrome	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 63478145.	NM_000546.6(TP53):c.996_997del (p.Ile332fs) GRCh37: Chr17:7574030-7574031 GRCh38: Chr17:7670712-7670713	TP53	I293fs, I173fs, I200fs, I332fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 176873246.	NM_000546.6(TP53):c.995T>A (p.Ile332Asn) GRCh37: Chr17:7574032 GRCh38: Chr17:7670714	TP53	I173N, I200N, I293N, I332N	Hereditary cancer-predisposing syndrome	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 23265947.	NM_000546.6(TP53):c.994-1G>C GRCh37: Chr17:7574034 GRCh38: Chr17:7670716	TP53		Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14216148.	NM_000546.6(TP53):c.994-1G>A GRCh37: Chr17:7574034 GRCh38: Chr17:7670716	TP53		Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48700049.	NM_000546.6(TP53):c.994-2A>G GRCh37: Chr17:7574035 GRCh38: Chr17:7670717	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63538450.	NM_000546.6(TP53):c.993+2T>G GRCh37: Chr17:7576851 GRCh38: Chr17:7673533	TP53		Familial cancer of breast, Hereditary cancer-predisposing syndrome	Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63476651.	NM_000546.6(TP53):c.993+1G>T GRCh37: Chr17:7576852 GRCh38: Chr17:7673534	TP53		Li-Fraumeni syndrome	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 52826152.	NM_000546.6(TP53):c.993+1G>A GRCh37: Chr17:7576852 GRCh38: Chr17:7673534	TP53		Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic/Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42889853.	NM_000546.6(TP53):c.993+1del GRCh37: Chr17:7576852 GRCh38: Chr17:7673534	TP53		Li-Fraumeni syndrome	Pathogenic (Aug 28, 2019)	reviewed by expert panel FDA Recognized Database
Select item 37980154.	NM_000546.6(TP53):c.993+1G>C GRCh37: Chr17:7576852 GRCh38: Chr17:7673534	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, not provided, Li-Fraumeni syndrome 1	Pathogenic/Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106620355.	NM_000546.6(TP53):c.934_992dup (p.Ile332fs) GRCh37: Chr17:7576853-7576854 GRCh38: Chr17:7673535-7673536	TP53	D173fs, D200fs, D293fs, D332fs, I173fs, I200fs, I293fs, I332fs, M173fs, M200fs, M293fs, M332fs	Li-Fraumeni syndrome	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 45857956.	NM_000546.6(TP53):c.990_993del (p.Gln331fs) GRCh37: Chr17:7576853-7576856 GRCh38: Chr17:7673535-7673538	TP53	Q331fs, Q199fs, Q172fs, Q292fs	Li-Fraumeni syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 42886857.	NM_000546.6(TP53):c.993G>A (p.Gln331=) GRCh37: Chr17:7576853 GRCh38: Chr17:7673535	TP53		Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, not provided	Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92289358.	NM_000546.6(TP53):c.991C>T (p.Gln331Ter) GRCh37: Chr17:7576855 GRCh38: Chr17:7673537	TP53	Q199, Q331, Q292, Q172	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 2, 2020)	criteria provided, single submitter
Select item 137802059.	NM_000546.6(TP53):c.990del (p.Gln331fs) GRCh37: Chr17:7576856 GRCh38: Chr17:7673538	TP53	Q172fs, Q199fs, Q331fs, Q292fs	Li-Fraumeni syndrome	Pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 95220460.	NM_000546.6(TP53):c.988del (p.Leu330fs) GRCh37: Chr17:7576858 GRCh38: Chr17:7673540	TP53	L198fs, L291fs, L330fs, L171fs	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic (Dec 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 62845961.	NM_000546.6(TP53):c.968_986del (p.Leu323fs) GRCh37: Chr17:7576860-7576878 GRCh38: Chr17:7673542-7673560	TP53	L323fs, L164fs, L191fs, L284fs	Hereditary cancer-predisposing syndrome	Pathogenic (May 29, 2018)	criteria provided, single submitter
Select item 145655762.	NM_000546.6(TP53):c.982_983dup (p.Thr329fs) GRCh37: Chr17:7576862-7576863 GRCh38: Chr17:7673544-7673545	TP53	T197fs, T170fs, T290fs, T329fs	Li-Fraumeni syndrome	Pathogenic (Apr 26, 2021)	criteria provided, single submitter
Select item 27996263.	NM_000546.6(TP53):c.983dup (p.Thr329fs) GRCh37: Chr17:7576862-7576863 GRCh38: Chr17:7673544-7673545	TP53	T290fs, T329fs, T197fs, T170fs	Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136133164.	NM_000546.6(TP53):c.981T>A (p.Tyr327Ter) GRCh37: Chr17:7576865 GRCh38: Chr17:7673547	TP53	Y168, Y195, Y327, Y288	Li-Fraumeni syndrome	Pathogenic (May 1, 2021)	criteria provided, single submitter
Select item 63478365.	NM_000546.6(TP53):c.980_981del (p.Tyr327fs) GRCh37: Chr17:7576865-7576866 GRCh38: Chr17:7673547-7673548	TP53	Y168fs, Y195fs, Y327fs, Y288fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 24606966.	NM_000546.6(TP53):c.981T>G (p.Tyr327Ter) GRCh37: Chr17:7576865 GRCh38: Chr17:7673547	TP53	Y195, Y288, Y327, Y168	not provided	Likely pathogenic (Aug 9, 2018)	criteria provided, single submitter
Select item 82346667.	NM_000546.6(TP53):c.976_977dup (p.Tyr327fs) GRCh37: Chr17:7576868-7576869 GRCh38: Chr17:7673550-7673551	TP53	Y168fs, Y288fs, Y327fs, Y195fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 30, 2019)	criteria provided, single submitter
Select item 23181568.	NM_000546.6(TP53):c.976G>T (p.Glu326Ter) GRCh37: Chr17:7576870 GRCh38: Chr17:7673552	TP53	E194, E287, E326, E167	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21607969.	NM_000546.6(TP53):c.973G>T (p.Gly325Ter) GRCh37: Chr17:7576873 GRCh38: Chr17:7673555	TP53	G193, G286, G325, G166	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, not provided	Pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49274470.	NM_000546.6(TP53):c.970del (p.Asp324fs) GRCh37: Chr17:7576876 GRCh38: Chr17:7673558	TP53	D165fs, D192fs, D285fs, D324fs	not provided	Likely pathogenic	no assertion criteria provided
Select item 176769171.	NM_000546.6(TP53):c.965del (p.Pro322fs) GRCh37: Chr17:7576881 GRCh38: Chr17:7673563	TP53	P190fs, P163fs, P283fs, P322fs	Hereditary cancer-predisposing syndrome	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 84239772.	NM_000546.6(TP53):c.961A>T (p.Lys321Ter) GRCh37: Chr17:7576885 GRCh38: Chr17:7673567	TP53	K189, K282, K162, K321	Li-Fraumeni syndrome	Pathogenic (May 25, 2019)	criteria provided, single submitter
Select item 107571173.	NM_000546.6(TP53):c.958A>T (p.Lys320Ter) GRCh37: Chr17:7576888 GRCh38: Chr17:7673570	TP53	K161, K188, K281, K320	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Dec 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 82330274.	NM_000546.6(TP53):c.951_954del (p.Pro318fs) GRCh37: Chr17:7576892-7576895 GRCh38: Chr17:7673574-7673577	TP53	P159fs, P186fs, P279fs, P318fs	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 14, 2018)	criteria provided, single submitter
Select item 48074775.	NM_000546.6(TP53):c.950del (p.Gln317fs) GRCh37: Chr17:7576896 GRCh38: Chr17:7673578	TP53	Q158fs, Q317fs, Q185fs, Q278fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 14, 2016)	criteria provided, single submitter
Select item 57728676.	NM_000546.6(TP53):c.949del (p.Gln317fs) GRCh37: Chr17:7576897 GRCh38: Chr17:7673579	TP53	Q185fs, Q278fs, Q158fs, Q317fs	Li-Fraumeni syndrome	Pathogenic (Jan 16, 2020)	criteria provided, single submitter
Select item 45034477.	NM_000546.6(TP53):c.949C>T (p.Gln317Ter) GRCh37: Chr17:7576897 GRCh38: Chr17:7673579	TP53	Q185, Q278, Q317, Q158	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1	Pathogenic/Likely pathogenic (Mar 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142509378.	NM_000546.6(TP53):c.945dup (p.Pro316fs) GRCh37: Chr17:7576900-7576901 GRCh38: Chr17:7673582-7673583	TP53	P157fs, P316fs, P184fs, P277fs	Li-Fraumeni syndrome	Pathogenic (Feb 12, 2021)	criteria provided, single submitter
Select item 139101979.	NM_000546.6(TP53):c.945_946del (p.Gln317fs) GRCh37: Chr17:7576900-7576901 GRCh38: Chr17:7673582-7673583	TP53	Q278fs, Q185fs, Q317fs, Q158fs	Li-Fraumeni syndrome	Pathogenic (Dec 23, 2020)	criteria provided, single submitter
Select item 63476780.	NM_000546.6(TP53):c.937_946del (p.Ser313fs) GRCh37: Chr17:7576900-7576909 GRCh38: Chr17:7673582-7673591	TP53	S181fs, S274fs, S154fs, S313fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 66391481.	NM_000546.6(TP53):c.945del (p.Gln317fs) GRCh37: Chr17:7576901 GRCh38: Chr17:7673583	TP53	Q158fs, Q185fs, Q278fs, Q317fs	Li-Fraumeni syndrome	Pathogenic (Oct 23, 2018)	criteria provided, single submitter
Select item 176658682.	NM_000546.6(TP53):c.932dup (p.Asn311fs) GRCh37: Chr17:7576913-7576914 GRCh38: Chr17:7673595-7673596	TP53	N311fs, N179fs, N152fs, N272fs	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 63478783.	NM_000546.6(TP53):c.933del (p.Asn311fs) GRCh37: Chr17:7576913 GRCh38: Chr17:7673595	TP53	N179fs, N311fs, N152fs, N272fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 87129284.	NM_000546.6(TP53):c.927del (p.Asn310fs) GRCh37: Chr17:7576919 GRCh38: Chr17:7673601	TP53	N178fs, N310fs, N271fs, N151fs	not provided	Pathogenic (May 1, 2019)	criteria provided, single submitter
Select item 202929685.	NM_000546.6(TP53):c.920-3_923del GRCh37: Chr17:7576923-7576929 GRCh38: Chr17:7673605-7673611	TP53		Li-Fraumeni syndrome	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 148633486.	NM_000546.6(TP53):c.920-4_920del GRCh37: Chr17:7576926-7576930 GRCh38: Chr17:7673608-7673612	TP53		Li-Fraumeni syndrome	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 48076587.	NM_000546.6(TP53):c.920-1G>T GRCh37: Chr17:7576927 GRCh38: Chr17:7673609	TP53		Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40661088.	NM_000546.6(TP53):c.920-1G>C GRCh37: Chr17:7576927 GRCh38: Chr17:7673609	TP53		Li-Fraumeni syndrome	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 14137789.	NM_000546.6(TP53):c.920-1G>A GRCh37: Chr17:7576927 GRCh38: Chr17:7673609	TP53		Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4359590.	NM_000546.6(TP53):c.920-2A>G GRCh37: Chr17:7576928 GRCh38: Chr17:7673610	TP53		Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66028791.	NM_000546.6(TP53):c.917_919+15del GRCh37: Chr17:7577004-7577021 GRCh38: Chr17:7673686-7673703	TP53		Li-Fraumeni syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 52825392.	NM_000546.6(TP53):c.917_919+10del GRCh37: Chr17:7577009-7577021 GRCh38: Chr17:7673691-7673703	TP53		Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 57030793.	NM_000546.6(TP53):c.917_919+6del GRCh37: Chr17:7577013-7577021 GRCh38: Chr17:7673695-7673703	TP53		Li-Fraumeni syndrome	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 63360894.	NM_000546.6(TP53):c.919+2T>A GRCh37: Chr17:7577017 GRCh38: Chr17:7673699	TP53		Hereditary breast ovarian cancer syndrome	Pathogenic (May 21, 2019)	no assertion criteria provided
Select item 42887795.	NM_000546.6(TP53):c.919+2T>G GRCh37: Chr17:7577017 GRCh38: Chr17:7673699	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106848496.	NM_000546.6(TP53):c.919+1del GRCh37: Chr17:7577018 GRCh38: Chr17:7673700	TP53		Li-Fraumeni syndrome	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 84183097.	NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) GRCh37: Chr17:7577018-7577019 GRCh38: Chr17:7673700-7673701	TP53		Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63360698.	NM_000546.6(TP53):c.919+1G>A GRCh37: Chr17:7577018 GRCh38: Chr17:7673700	TP53		Li-Fraumeni syndrome	Likely pathogenic (Aug 28, 2019)	reviewed by expert panel FDA Recognized Database
Select item 49532699.	NM_000546.6(TP53):c.919+1G>T GRCh37: Chr17:7577018 GRCh38: Chr17:7673700	TP53		Colorectal cancer	Likely pathogenic (Jul 11, 2016)	no assertion criteria provided
Select item 428905100.	NM_000546.6(TP53):c.919+1G>C GRCh37: Chr17:7577018 GRCh38: Chr17:7673700	TP53		Hereditary cancer-predisposing syndrome	Likely pathogenic (Apr 11, 2016)	criteria provided, single submitter

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