ClinVar for MedGen (Select 322656) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25732301.	NM_000546.6(TP53):c.743_744insCCGCCCATGAACCTCCGGCATGAACCG (p.Pro250_Ile251insTerArgPro) GRCh37: Chr17:7577537-7577538 GRCh38: Chr17:7674219-7674220	TP53		Li-Fraumeni syndrome 1	Pathogenic (Mar 10, 2023)	criteria provided, single submitter
Select item 25729922.	NM_000546.6(TP53):c.318dup (p.Tyr107fs) GRCh37: Chr17:7579368-7579369 GRCh38: Chr17:7676050-7676051	TP53	Y107fs, Y68fs	Li-Fraumeni syndrome 1	Likely pathogenic (Apr 29, 2023)	criteria provided, single submitter
Select item 24981033.	NM_000546.6(TP53):c.291C>T (p.Val97=) GRCh37: Chr17:7579396 GRCh38: Chr17:7676078	TP53		Li-Fraumeni syndrome 1	Uncertain significance (Apr 12, 2023)	criteria provided, single submitter
Select item 24313274.	NM_000546.6(TP53):c.782+2T>C GRCh37: Chr17:7577497 GRCh38: Chr17:7674179	TP53		Li-Fraumeni syndrome 1	Likely pathogenic (Jan 12, 2023)	criteria provided, single submitter
Select item 24302825.	NM_000546.6(TP53):c.1176_1177insAGAA (p.Asp393fs) GRCh37: Chr17:7572932-7572933 GRCh38: Chr17:7669614-7669615	TP53	D234fs, D261fs, D354fs, D393fs	Li-Fraumeni syndrome 1	Uncertain significance (Jan 31, 2023)	criteria provided, single submitter
Select item 18103276.	NM_000546.6(TP53):c.97-11C>A GRCh37: Chr17:7579601 GRCh38: Chr17:7676283	TP53		Li-Fraumeni syndrome 1	not provided	no assertion provided
Select item 17466077.	NM_000546.6(TP53):c.528C>A (p.Cys176Ter) GRCh37: Chr17:7578402 GRCh38: Chr17:7675084	TP53	C17, C44, C137, C176	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Pathogenic (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17097378.	NM_000546.6(TP53):c.782+5G>C GRCh37: Chr17:7577494 GRCh38: Chr17:7674176	TP53		Li-Fraumeni syndrome 1	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 16835139.	NM_000546.6(TP53):c.392_398dup (p.Met133fs) GRCh37: Chr17:7578531-7578532 GRCh38: Chr17:7675213-7675214	TP53	M133fs, M1fs, M94fs	Li-Fraumeni syndrome 1	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 145540010.	NM_000546.6(TP53):c.154C>T (p.Gln52Ter) GRCh37: Chr17:7579533 GRCh38: Chr17:7676215	TP53	Q52, Q13	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145425411.	NM_000546.6(TP53):c.645del (p.Ser215fs) GRCh37: Chr17:7578204 GRCh38: Chr17:7674886	TP53	S176fs, S215fs, S56fs, S83fs	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136009112.	NM_000546.6(TP53):c.774A>C (p.Glu258Asp) GRCh37: Chr17:7577507 GRCh38: Chr17:7674189	TP53	E99D, E126D, E219D, E258D	Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Uncertain significance (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 134134113.	NM_000546.6(TP53):c.72dup (p.Leu25fs) GRCh37: Chr17:7579840-7579841 GRCh38: Chr17:7676522-7676523	TP53	L25fs	Adrenocortical carcinoma, hereditary, Basal cell carcinoma, susceptibility to, 7, Colorectal cancer, Li-Fraumeni syndrome 1, Choroid plexus papilloma, Bone marrow failure syndrome 5, Glioma susceptibility 1	Pathogenic	criteria provided, single submitter
Select item 133865814.	NM_000546.6(TP53):c.416A>C (p.Lys139Thr) GRCh37: Chr17:7578514 GRCh38: Chr17:7675196	TP53	K100T, K139T, K7T	not specified, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133373215.	NM_000546.6(TP53):c.376-11_377del GRCh37: Chr17:7578553-7578565 GRCh38: Chr17:7675235-7675247	TP53		Li-Fraumeni syndrome 1	Likely pathogenic (Feb 11, 2021)	criteria provided, single submitter
Select item 132638716.	NM_000546.6(TP53):c.672+48G>T GRCh37: Chr17:7578129 GRCh38: Chr17:7674811	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, not provided, Li-Fraumeni syndrome	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131940217.	NM_000546.6(TP53):c.335G>A (p.Gly112Asp) GRCh37: Chr17:7579352 GRCh38: Chr17:7676034	TP53	G112D, G73D	Li-Fraumeni syndrome 1, not provided, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131697018.	NM_000546.6(TP53):c.748C>T (p.Pro250Ser) GRCh37: Chr17:7577533 GRCh38: Chr17:7674215	TP53	P118S, P211S, P250S, P91S	Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131575319.	NM_000546.6(TP53):c.687T>C (p.Cys229=) GRCh37: Chr17:7577594 GRCh38: Chr17:7674276	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, not provided	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124696820.	NM_000546.6(TP53):c.993+352C>T GRCh37: Chr17:7576501 GRCh38: Chr17:7673183	TP53		Li-Fraumeni syndrome 1, Hereditary breast ovarian cancer syndrome, not provided, Hereditary cancer-predisposing syndrome	Benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124395921.	NM_000546.6(TP53):c.782+92T>G GRCh37: Chr17:7577407 GRCh38: Chr17:7674089	TP53		Li-Fraumeni syndrome 1, Hereditary breast ovarian cancer syndrome, not provided, Hereditary cancer-predisposing syndrome	Benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124335122.	NM_000546.6(TP53):c.782+72C>T GRCh37: Chr17:7577427 GRCh38: Chr17:7674109	TP53		not provided, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Hereditary breast ovarian cancer syndrome	Benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121011923.	NM_000546.6(TP53):c.827_853del (p.Ala276_Thr284del) GRCh37: Chr17:7577085-7577111 GRCh38: Chr17:7673767-7673793	TP53		Li-Fraumeni syndrome 1	Likely pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 119475124.	NM_000546.6(TP53):c.672+48G>A GRCh37: Chr17:7578129 GRCh38: Chr17:7674811	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, not specified, not provided	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 118974325.	NM_000546.6(TP53):c.560-2A>C GRCh37: Chr17:7578291 GRCh38: Chr17:7674973	TP53		Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117292426.	NM_000546.6(TP53):c.46C>A (p.Gln16Lys) GRCh37: Chr17:7579867 GRCh38: Chr17:7676549	TP53	Q16K	Li-Fraumeni syndrome 1	Uncertain significance (Jun 16, 2021)	reviewed by expert panel FDA Recognized Database
Select item 117292327.	NM_000546.6(TP53):c.866T>C (p.Leu289Pro) GRCh37: Chr17:7577072 GRCh38: Chr17:7673754	TP53	L130P, L157P, L250P, L289P	Li-Fraumeni syndrome 1	Likely benign (Jun 16, 2021)	reviewed by expert panel FDA Recognized Database
Select item 117107228.	NM_000546.6(TP53):c.531C>T (p.Pro177=) GRCh37: Chr17:7578399 GRCh38: Chr17:7675081	TP53		Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117006429.	NC_000017.11:g.7668174_7668179dup GRCh37: Chr17:7571487-7571488 GRCh38: Chr17:7668169-7668170	TP53		Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109907930.	NM_000546.6(TP53):c.699C>T (p.His233=) GRCh37: Chr17:7577582 GRCh38: Chr17:7674264	TP53		Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108660031.	NM_000546.6(TP53):c.189T>C (p.Ala63=) GRCh37: Chr17:7579498 GRCh38: Chr17:7676180	TP53		Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101961232.	NM_000546.6(TP53):c.1009C>A (p.Arg337Ser) GRCh37: Chr17:7574018 GRCh38: Chr17:7670700	TP53	R178S, R205S, R298S, R337S	Li-Fraumeni syndrome 1	Uncertain significance (Jun 3, 2021)	reviewed by expert panel FDA Recognized Database
Select item 101221033.	NM_000546.6(TP53):c.825T>A (p.Cys275Ter) GRCh37: Chr17:7577113 GRCh38: Chr17:7673795	TP53	C116, C143, C236, C275	Li-Fraumeni syndrome 1	Pathogenic (Apr 2, 2020)	criteria provided, single submitter
Select item 99324434.	NM_000546.6(TP53):c.-10G>T GRCh37: Chr17:7579922 GRCh38: Chr17:7676604	TP53		not provided, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98296935.	NM_000546.6(TP53):c.892del (p.Glu298fs) GRCh37: Chr17:7577046 GRCh38: Chr17:7673728	TP53	E139fs, E166fs, E259fs, E298fs	not provided, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Pathogenic/Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97595936.	NM_000546.6(TP53):c.1129A>C (p.Thr377Pro) GRCh37: Chr17:7572980 GRCh38: Chr17:7669662	TP53	T218P, T245P, T338P, T377P	Li-Fraumeni syndrome 1	Uncertain significance (Mar 6, 2018)	criteria provided, single submitter
Select item 97385837.	NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp) GRCh37: Chr17:7578443-7578448 GRCh38: Chr17:7675125-7675130	TP53		Li-Fraumeni syndrome 1	Uncertain significance (Mar 14, 2022)	reviewed by expert panel FDA Recognized Database
Select item 95145938.	NM_000546.6(TP53):c.677G>C (p.Gly226Ala) GRCh37: Chr17:7577604 GRCh38: Chr17:7674286	TP53	G187A, G94A, G67A, G226A	Li-Fraumeni syndrome, Adrenocortical carcinoma, hereditary, Familial cancer of breast, Glioma susceptibility 1, Li-Fraumeni syndrome 1, Nasopharyngeal carcinoma, Carcinoma of pancreas, Choroid plexus papilloma, Bone osteosarcoma, Basal cell carcinoma, susceptibility to, 7, Hepatocellular carcinomaColorectal cancer, Bone marrow failure syndrome 5, ...see more	Uncertain significance (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94129839.	NM_000546.6(TP53):c.453_455del (p.Pro153del) GRCh37: Chr17:7578475-7578477 GRCh38: Chr17:7675157-7675159	TP53	P114del, P153del, P21del	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93483940.	NM_000546.6(TP53):c.920-14_920-3del GRCh37: Chr17:7576929-7576940 GRCh38: Chr17:7673611-7673622	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 92823741.	NM_000546.6(TP53):c.672+6_672+8delinsTTG GRCh37: Chr17:7578169-7578171 GRCh38: Chr17:7674851-7674853	TP53		Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer, Li-Fraumeni syndrome 1	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92677842.	NM_000546.6(TP53):c.5A>G (p.Glu2Gly) GRCh37: Chr17:7579908 GRCh38: Chr17:7676590	TP53	E2G	Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92655643.	NM_000546.6(TP53):c.684C>G (p.Asp228Glu) GRCh37: Chr17:7577597 GRCh38: Chr17:7674279	TP53	D189E, D228E, D69E, D96E	Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Jun 18, 2022)	criteria provided, conflicting interpretations
Select item 92647044.	NM_000546.6(TP53):c.891C>G (p.His297Gln) GRCh37: Chr17:7577047 GRCh38: Chr17:7673729	TP53	H258Q, H297Q, H138Q, H165Q	Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92621345.	NM_000546.6(TP53):c.838A>C (p.Arg280=) GRCh37: Chr17:7577100 GRCh38: Chr17:7673782	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92253146.	NM_000546.6(TP53):c.576G>T (p.Gln192His) GRCh37: Chr17:7578273 GRCh38: Chr17:7674955	TP53	Q60H, Q33H, Q153H, Q192H	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92114247.	NM_000546.6(TP53):c.692C>G (p.Thr231Ser) GRCh37: Chr17:7577589 GRCh38: Chr17:7674271	TP53	T99S, T72S, T192S, T231S	Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91942748.	NM_000546.6(TP53):c.783-14C>T GRCh37: Chr17:7577169 GRCh38: Chr17:7673851	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91935849.	NM_000546.6(TP53):c.376-14T>G GRCh37: Chr17:7578568 GRCh38: Chr17:7675250	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91932250.	NM_000546.6(TP53):c.507G>T (p.Met169Ile) GRCh37: Chr17:7578423 GRCh38: Chr17:7675105	TP53	M130I, M169I, M10I, M37I	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91921151.	NM_000546.6(TP53):c.1102C>A (p.His368Asn) GRCh37: Chr17:7573007 GRCh38: Chr17:7669689	TP53	H329N, H209N, H368N, H236N	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91826352.	NM_000546.6(TP53):c.219G>T (p.Val73=) GRCh37: Chr17:7579468 GRCh38: Chr17:7676150	TP53		Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89178053.	NM_000546.6(TP53):c.*144G>A GRCh37: Chr17:7572783 GRCh38: Chr17:7669465	TP53		Li-Fraumeni syndrome 1	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89158954.	NM_000546.6(TP53):c.-123C>T GRCh37: Chr17:7590789 GRCh38: Chr17:7687471	LOC126862483, TP53, WRAP53		Li-Fraumeni syndrome 1	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89153555.	NM_000546.6(TP53):c.*168C>T GRCh37: Chr17:7572759 GRCh38: Chr17:7669441	TP53		Li-Fraumeni syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89153456.	NM_000546.6(TP53):c.*328G>A GRCh37: Chr17:7572599 GRCh38: Chr17:7669281	TP53		Li-Fraumeni syndrome 1	Benign (Mar 6, 2018)	criteria provided, single submitter
Select item 89153357.	NM_000546.6(TP53):c.*357T>C GRCh37: Chr17:7572570 GRCh38: Chr17:7669252	TP53		Li-Fraumeni syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89153258.	NM_000546.6(TP53):c.*409C>A GRCh37: Chr17:7572518 GRCh38: Chr17:7669200	TP53		Li-Fraumeni syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89003859.	NM_000546.6(TP53):c.-22G>A GRCh37: Chr17:7579934 GRCh38: Chr17:7676616	TP53		Li-Fraumeni syndrome 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88996860.	NM_000546.6(TP53):c.*760T>C GRCh37: Chr17:7572167 GRCh38: Chr17:7668849	TP53		Li-Fraumeni syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88996761.	NM_000546.6(TP53):c.*761T>C GRCh37: Chr17:7572166 GRCh38: Chr17:7668848	TP53		Li-Fraumeni syndrome 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88928662.	NM_000546.6(TP53):c.*1132C>T GRCh37: Chr17:7571795 GRCh38: Chr17:7668477	TP53		Li-Fraumeni syndrome 1, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 86330763.	NM_000546.6(TP53):c.783-6G>A GRCh37: Chr17:7577161 GRCh38: Chr17:7673843	TP53		Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85823664.	NM_000546.6(TP53):c.7G>A (p.Glu3Lys) GRCh37: Chr17:7579906 GRCh38: Chr17:7676588	TP53	E3K	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Conflicting interpretations of pathogenicity (Jun 18, 2022)	criteria provided, conflicting interpretations
Select item 84252765.	NM_000546.6(TP53):c.86A>C (p.Asn29Thr) GRCh37: Chr17:7579710 GRCh38: Chr17:7676392	TP53	N29T	Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Uncertain significance (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 84183066.	NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) GRCh37: Chr17:7577018-7577019 GRCh38: Chr17:7673700-7673701	TP53		Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82754767.	NM_000546.6(TP53):c.826G>A (p.Ala276Thr) GRCh37: Chr17:7577112 GRCh38: Chr17:7673794	TP53	A117T, A276T, A144T, A237T	Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82740068.	NM_000546.6(TP53):c.801G>A (p.Arg267=) GRCh37: Chr17:7577137 GRCh38: Chr17:7673819	TP53		Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82720169.	NM_000546.6(TP53):c.769C>G (p.Leu257Val) GRCh37: Chr17:7577512 GRCh38: Chr17:7674194	TP53	L218V, L98V, L257V, L125V	Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82643870.	NM_000546.6(TP53):c.648G>C (p.Val216=) GRCh37: Chr17:7578201 GRCh38: Chr17:7674883	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck	Benign/Likely benign (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82639471.	NM_000546.6(TP53):c.642_643del (p.His214fs) GRCh37: Chr17:7578206-7578207 GRCh38: Chr17:7674888-7674889	TP53	H214fs, H55fs, H82fs, H175fs	not provided, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 82636872.	NM_000546.6(TP53):c.637C>A (p.Arg213=) GRCh37: Chr17:7578212 GRCh38: Chr17:7674894	TP53		Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82633473.	NM_000546.6(TP53):c.633T>G (p.Thr211=) GRCh37: Chr17:7578216 GRCh38: Chr17:7674898	TP53		Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82626174.	NM_000546.6(TP53):c.622G>C (p.Asp208His) GRCh37: Chr17:7578227 GRCh38: Chr17:7674909	TP53	D208H, D49H, D169H, D76H	Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82610975.	NM_000546.6(TP53):c.59C>T (p.Ser20Leu) GRCh37: Chr17:7579854 GRCh38: Chr17:7676536	TP53	S20L	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82605176.	NM_000546.6(TP53):c.590T>G (p.Val197Gly) GRCh37: Chr17:7578259 GRCh38: Chr17:7674941	TP53	V197G, V38G, V158G, V65G	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Uncertain significance (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82586477.	NM_000546.6(TP53):c.563del (p.Leu188fs) GRCh37: Chr17:7578286 GRCh38: Chr17:7674968	TP53	L149fs, L56fs, L188fs, L29fs	Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82572978.	NM_000546.6(TP53):c.542G>C (p.Arg181Pro) GRCh37: Chr17:7578388 GRCh38: Chr17:7675070	TP53	R181P, R22P, R142P, R49P	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82564579.	NM_000546.6(TP53):c.531C>G (p.Pro177=) GRCh37: Chr17:7578399 GRCh38: Chr17:7675081	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Likely benign (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82545580.	NM_000546.6(TP53):c.510G>T (p.Thr170=) GRCh37: Chr17:7578420 GRCh38: Chr17:7675102	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82499881.	NM_000546.6(TP53):c.455C>G (p.Pro152Arg) GRCh37: Chr17:7578475 GRCh38: Chr17:7675157	TP53	P152R, P20R, P113R	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82485582.	NM_000546.6(TP53):c.438G>T (p.Trp146Cys) GRCh37: Chr17:7578492 GRCh38: Chr17:7675174	TP53	W146C, W107C, W14C	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82476983.	NM_000546.6(TP53):c.42G>A (p.Leu14=) GRCh37: Chr17:7579871 GRCh38: Chr17:7676553	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82436284.	NM_000546.6(TP53):c.390_426del (p.Asn131fs) GRCh37: Chr17:7578504-7578540 GRCh38: Chr17:7675186-7675222	TP53	N131fs, M1fs, N92fs	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Familial cancer of breast	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82428685.	NM_000546.6(TP53):c.383C>T (p.Pro128Leu) GRCh37: Chr17:7578547 GRCh38: Chr17:7675229	TP53	P128L, P89L	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82423286.	NM_000546.6(TP53):c.379T>A (p.Ser127Thr) GRCh37: Chr17:7578551 GRCh38: Chr17:7675233	TP53	S127T, S88T	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Jun 18, 2022)	criteria provided, conflicting interpretations
Select item 82370987.	NM_000546.6(TP53):c.338T>C (p.Phe113Ser) GRCh37: Chr17:7579349 GRCh38: Chr17:7676031	TP53	F74S, F113S	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Uncertain significance (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82355388.	NM_000546.6(TP53):c.991C>A (p.Gln331Lys) GRCh37: Chr17:7576855 GRCh38: Chr17:7673537	TP53	Q292K, Q172K, Q199K, Q331K	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82326889.	NM_000546.6(TP53):c.946C>T (p.Pro316Ser) GRCh37: Chr17:7576900 GRCh38: Chr17:7673582	TP53	P277S, P157S, P316S, P184S	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 82309290.	NM_000546.6(TP53):c.920-4C>T GRCh37: Chr17:7576930 GRCh38: Chr17:7673612	TP53		Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82287891.	NM_000546.6(TP53):c.309C>G (p.Tyr103Ter) GRCh37: Chr17:7579378 GRCh38: Chr17:7676060	TP53	Y103, Y64	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82250192.	NM_000546.6(TP53):c.29T>G (p.Val10Gly) GRCh37: Chr17:7579884 GRCh38: Chr17:7676566	TP53	V10G	Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82222293.	NM_000546.6(TP53):c.1130C>T (p.Thr377Ile) GRCh37: Chr17:7572979 GRCh38: Chr17:7669661	TP53	T377I, T218I, T245I, T338I	Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 82208594.	NM_000546.6(TP53):c.1053G>T (p.Lys351Asn) GRCh37: Chr17:7573974 GRCh38: Chr17:7670656	TP53	K351N, K219N, K312N, K192N	Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82201695.	NM_000546.6(TP53):c.1016A>G (p.Glu339Gly) GRCh37: Chr17:7574011 GRCh38: Chr17:7670693	TP53	E300G, E180G, E207G, E339G	not provided, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82182896.	NM_000546.6(TP53):c.27C>A (p.Ser9Arg) GRCh37: Chr17:7579886 GRCh38: Chr17:7676568	TP53	S9R	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82014497.	NM_000546.6(TP53):c.183T>A (p.Asp61Glu) GRCh37: Chr17:7579504 GRCh38: Chr17:7676186	TP53	D22E, D61E	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1	Conflicting interpretations of pathogenicity (Apr 27, 2023)	criteria provided, conflicting interpretations
Select item 81850298.	NM_000546.6(TP53):c.1177G>C (p.Asp393His) GRCh37: Chr17:7572932 GRCh38: Chr17:7669614	TP53	D234H, D261H, D354H, D393H	Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Jun 18, 2022)	criteria provided, conflicting interpretations
Select item 81833199.	NM_000546.6(TP53):c.107C>T (p.Pro36Leu) GRCh37: Chr17:7579580 GRCh38: Chr17:7676262	TP53	P36L	Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 818289100.	NM_000546.6(TP53):c.1030C>T (p.Leu344=) GRCh37: Chr17:7573997 GRCh38: Chr17:7670679	TP53		Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts

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