ClinVar for Gene (Select 7157) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366184	NM_000546.6(TP53):c.156_163del (p.Gln52fs)	TP53 (Q13fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3359424	NM_000546.6(TP53):c.278T>C (p.Leu93Pro)	TP53 (L54P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3348739	NM_000546.6(TP53):c.673-29C>G	TP53	Single nucleotide variant (intron variant)	TP53-related disorder	GLikely benign
Select item 3340289	NM_000546.6(TP53):c.293del (p.Pro98fs)	TP53 (P59fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3340046	NM_000546.6(TP53):c.874A>T (p.Lys292Ter)	TP53 (K133* +3 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 3340041	NM_000546.6(TP53):c.884C>A (p.Pro295His)	TP53 (P136H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3337681	NM_000546.6(TP53):c.330del (p.Leu111fs)	TP53 (L111fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3337086	NM_000546.6(TP53):c.-21_672+21del	TP53	Deletion (splice acceptor variant +2 more)	not provided	GPathogenic
Select item 3328176	NM_000546.6(TP53):c.916C>G (p.Arg306Gly)	TP53 (R174G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3328175	NM_000546.6(TP53):c.282del (p.Ser95fs)	TP53 (S56fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3328173	NM_000546.6(TP53):c.561T>G (p.Gly187=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3328172	NM_000546.6(TP53):c.214_215delinsAG (p.Pro72Ser)	TP53 (P33S +1 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3328171	NM_000546.6(TP53):c.1061A>C (p.Gln354Pro)	TP53 (Q222P +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3328170	NM_000546.6(TP53):c.412_417dup (p.Lys139_Thr140insAlaLys)	TP53	Duplication (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3328169	NM_000546.6(TP53):c.956A>C (p.Lys319Thr)	TP53 (K187T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3328168	NM_000546.6(TP53):c.823dup (p.Cys275fs)	TP53 (C116fs +3 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3328167	NM_000546.6(TP53):c.1119G>C (p.Lys373Asn)	TP53 (K334N +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3328165	NM_000546.6(TP53):c.298_310del (p.Gln100fs)	TP53 (Q61fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3328164	NM_000546.6(TP53):c.1100+1_1100+14del	TP53	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3328163	NM_000546.6(TP53):c.446C>G (p.Ser149Cys)	TP53 (S149C +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3328162	NM_000546.6(TP53):c.905G>C (p.Gly302Ala)	TP53 (G170A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3328161	NM_000546.6(TP53):c.266_267del (p.Pro89fs)	TP53 (P50fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3328160	NM_000546.6(TP53):c.1004G>T (p.Arg335Leu)	TP53 (R203L +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3328158	NM_000546.6(TP53):c.689CCA[1] (p.Thr231del)	TP53 (T192del +3 more)	Microsatellite (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3328155	NM_000546.6(TP53):c.629del (p.Asn210fs)	TP53 (N51fs +3 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3328154	NM_000546.6(TP53):c.503A>C (p.His168Pro)	TP53 (H129P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3328150	NM_000546.6(TP53):c.547T>C (p.Ser183Pro)	TP53 (S144P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3258036	NM_000546.6(TP53):c.192del (p.Arg65fs)	TP53 (R26fs +1 more)	Deletion (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3258035	NM_000546.6(TP53):c.311_318del (p.Gln104fs)	TP53 (Q65fs +1 more)	Deletion (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3258034	NM_000546.6(TP53):c.420del (p.Cys141fs)	TP53 (C141fs +2 more)	Deletion (frameshift variant +2 more)	Neoplasm	OLikely oncogenic
Select item 3258033	NM_000546.6(TP53):c.481G>C (p.Ala161Pro)	TP53 (A161P +3 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3258032	NM_000546.6(TP53):c.505_506del (p.Met169fs)	TP53 (M130fs +3 more)	Deletion (frameshift variant +1 more)	Neoplasm	OOncogenic
Select item 3258031	NM_000546.6(TP53):c.560-2A>T	TP53	Single nucleotide variant (splice acceptor variant)	Neoplasm	OLikely oncogenic
Select item 3258028	NM_000546.6(TP53):c.713_721del (p.Cys238_Ser240del)	TP53	Deletion (inframe_deletion +1 more)	Neoplasm	OUncertain significance
Select item 3258026	NM_000546.6(TP53):c.764_782+4del	TP53	Deletion (splice donor variant)	Neoplasm	OOncogenic
Select item 3258025	NM_000546.6(TP53):c.783-20_794del	TP53	Deletion (splice acceptor variant)	Neoplasm	OLikely oncogenic
Select item 3258022	NM_000546.6(TP53):c.943_947del (p.Ser315fs)	TP53 (S156fs +3 more)	Deletion (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3258019	NM_000546.6(TP53):c.1002del (p.Arg335fs)	TP53 (R176fs +3 more)	Deletion (frameshift variant +2 more)	Neoplasm	OLikely oncogenic
Select item 3258018	NM_000546.6(TP53):c.1022_1026del (p.Met340_Phe341insTer)	TP53	Deletion (nonsense +2 more)	Neoplasm	OLikely oncogenic
Select item 3257753	NM_000546.6(TP53):c.373_375+1delinsCCTT	TP53 (T125P +1 more)	Single nucleotide variant (synonymous variant +2 more)	Neoplasm	OLikely oncogenic
Select item 3256328	NM_000546.6(TP53):c.96+36_96+49del	TP53	Deletion (intron variant)	not specified	GLikely benign
Select item 3256327	NM_000546.6(TP53):c.672+24T>C	TP53	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256326	NM_000546.6(TP53):c.919+23G>A	TP53	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256325	NM_000546.6(TP53):c.1020G>C (p.Met340Ile)	TP53 (M181I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3252121	NM_000546.6(TP53):c.762del (p.Ile255fs)	TP53 (I123fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3242927	NC_000017.10:g.(?_7578283)_(7578750_?)del	TP53	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 3242926	NC_000017.10:g.(?_7589449)_(7593029_?)dup	TP53, WRAP53	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 3242925	NC_000017.10:g.(?_7590694)_(7593029_?)del	TP53, WRAP53	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 3242924	NC_000017.10:g.(?_7571752)_(7577647_?)del	TP53	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 3242923	NC_000017.10:g.(?_7571752)_(7578574_?)del	TP53	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 3242922	NC_000017.10:g.(?_7579690)_(7579912_?)del	TP53	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 3242921	NC_000017.10:g.(?_7571752)_(7573018_?)del	TP53	Deletion	Li-Fraumeni syndrome	GLikely pathogenic
Select item 3242919	NC_000017.10:g.(?_7573917)_(7574043_?)del	TP53	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 3242233	NM_000546.6(TP53):c.797dup (p.Arg267fs)	TP53 (R108fs +3 more)	Duplication (frameshift variant +1 more)	Chronic myelogenous leukemia, BCR-ABL1 positive	STier IV - Benign/Likely benign
Select item 3242232	NM_000546.6(TP53):c.803del (p.Asn268fs)	TP53 (N109fs +3 more)	Deletion (frameshift variant +1 more)	Chronic myelogenous leukemia, BCR-ABL1 positive	STier IV - Benign/Likely benign
Select item 3242231	NM_000546.6(TP53):c.763A>G (p.Ile255Val)	TP53 (I123V +3 more)	Single nucleotide variant (missense variant +1 more)	Chronic myelogenous leukemia, BCR-ABL1 positive	STier IV - Benign/Likely benign
Select item 3242230	NM_000546.6(TP53):c.682_683insC (p.Asp228fs)	TP53 (D189fs +3 more)	Insertion (frameshift variant +1 more)	Chronic myelogenous leukemia, BCR-ABL1 positive	STier IV - Benign/Likely benign
Select item 3240620	NM_000546.6(TP53):c.1054G>A (p.Asp352Asn)	TP53 (D193N +3 more)	Single nucleotide variant (missense variant +2 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 3240619	NM_000546.6(TP53):c.993+32A>T	TP53	Single nucleotide variant (intron variant)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 3240618	NM_000546.6(TP53):c.1087_1088inv (p.Arg363Leu)	TP53 (R204L +3 more)	Inversion (missense variant +2 more)	Adrenocortical carcinoma, hereditary	GUncertain significance
Select item 3240616	NM_000546.6(TP53):c.917_919+5delinsAGGA	TP53	Indel (splice donor variant)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 3240615	NM_000546.6(TP53):c.75-7_82delinsA	TP53	Indel (5 prime UTR variant +1 more)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 3236859	NM_000546.6(TP53):c.306del (p.Tyr103fs)	TP53 (Y103fs +1 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome	GLikely pathogenic
Select item 3232070	NM_000546.6(TP53):c.993+4_993+9delinsTTTCACC	TP53	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232069	NM_000546.6(TP53):c.919+15_919+17delinsTGGAAACGAATGGAATCATCATCGAATGGAAATGAAAGGAGTCATCATCTAATGGAATCGCATGGAATCATCATCAAATGGAATCGAATGGAATCATCATCAGATGGAATCTAATGGAAACATTGAACGGAATTGAATGGAATCGTCATCGAATGAATTGAATGCAATCATCGAATGGTCTCGAATGGAATCATCTTCAAATGGAATGGAATGGAATCATCGCATAGAATTGAATGGAATTATCATCGAATTGACTCGAATGGAATCAACATCTAACGGAATCAAACGGAATTATCGAATGGAATCGAAGAGAATCATC	TP53	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232068	NM_000546.6(TP53):c.885T>A (p.Pro295=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232067	NM_000546.6(TP53):c.837_846del (p.Arg280fs)	TP53 (R121fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232066	NM_000546.6(TP53):c.819dup (p.Val274fs)	TP53 (V115fs +3 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232065	NM_000546.6(TP53):c.801_818del (p.Asn268_Arg273del)	TP53	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3232064	NM_000546.6(TP53):c.782+2_782+8del	TP53	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3232063	NM_000546.6(TP53):c.769del (p.Leu257fs)	TP53 (L125fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232062	NM_000546.6(TP53):c.714T>A (p.Cys238Ter)	TP53 (C106* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232061	NM_000546.6(TP53):c.700_702del (p.Tyr234del)	TP53 (Y102del +3 more)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3232060	NM_000546.6(TP53):c.683_686del (p.Asp228fs)	TP53 (D189fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232059	NM_000546.6(TP53):c.643del (p.Ser215fs)	TP53 (S176fs +3 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232058	NM_000546.6(TP53):c.629A>G (p.Asn210Ser)	TP53 (N171S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232056	NM_000546.6(TP53):c.435G>A (p.Leu145=)	TP53	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232055	NM_000546.6(TP53):c.380_416del (p.Tyr126_Ser127insTer)	TP53 (M1fs)	Deletion (nonsense +4 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232053	NM_000546.6(TP53):c.272G>C (p.Trp91Ser)	TP53 (W52S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232051	NM_000546.6(TP53):c.166G>A (p.Glu56Lys)	TP53 (E17K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing 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 3232049	NM_000546.6(TP53):c.1171G>A (p.Asp391Asn)	TP53 (D232N +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3232048	NM_000546.6(TP53):c.1148T>C (p.Leu383Pro)	TP53 (L224P +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232047	NM_000546.6(TP53):c.1061A>T (p.Gln354Leu)	TP53 (Q195L +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GBenign
Select item 3181373	NM_000546.6(TP53):c.469_471del (p.Val157del)	TP53 (V157del +2 more)	Deletion (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3148820	NM_000546.6(TP53):c.728dup (p.Met243fs)	TP53 (M243fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148769	NM_000546.6(TP53):c.757A>C (p.Thr253Pro)	TP53 (T253P +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +1 more	GLikely pathogenic
Select item 3148702	NM_000546.6(TP53):c.657dup (p.Tyr220fs)	TP53 (Y61fs +3 more)	Duplication (frameshift variant)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148681	NM_000546.6(TP53):c.812dup (p.Val272fs)	TP53 (V140fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148674	NM_000546.6(TP53):c.891_892insA (p.Glu298fs)	TP53 (E166fs +3 more)	Insertion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148668	NM_000546.6(TP53):c.838_851delinsTGACCAAAT (p.Arg280_Thr284delinsTer)	TP53	Indel (nonsense +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148646	NM_000546.6(TP53):c.477del (p.Met160fs)	TP53 (M121fs +2 more)	Deletion (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148635	NM_000546.6(TP53):c.900_916dup (p.Arg306fs)	TP53 (R267fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148627	NM_000546.6(TP53):c.804del (p.Asn268fs)	TP53 (N109fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148626	NM_000546.6(TP53):c.848delinsCC (p.Arg283fs)	TP53 (R124fs +3 more)	Indel (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148607	NM_000546.6(TP53):c.783-8_784del	TP53	Deletion (splice acceptor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148585	NM_000546.6(TP53):c.1101-2_1101-1inv	TP53	Inversion (splice acceptor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148584	NM_000546.6(TP53):c.314_329del (p.Gly105fs)	TP53 (G66fs +1 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148542	NM_000546.6(TP53):c.456del (p.Gly154fs)	TP53 (G22fs +2 more)	Deletion (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic

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