ClinVar for MedGen (Select 322656) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3148530	NM_000546.6(TP53):c.858del (p.Glu287fs)	TP53 (E248fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148512	NM_000546.6(TP53):c.159dup (p.Phe54fs)	TP53 (F15fs +1 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148511	NM_000546.6(TP53):c.64del (p.Leu22fs)	TP53 (L22fs)	Deletion (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148502	NM_000546.6(TP53):c.242_245dup (p.Ala83fs)	TP53 (A83fs +1 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148499	NM_000546.6(TP53):c.321_331del (p.Phe109fs)	TP53 (F109fs +1 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148488	NM_000546.6(TP53):c.380_384dup (p.Ala129fs)	TP53 (A90fs +1 more)	Duplication (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148475	NM_000546.6(TP53):c.368del (p.Thr123fs)	TP53 (T84fs +1 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148467	NM_000546.6(TP53):c.86_87delinsT (p.Asn29fs)	TP53 (N29fs)	Indel (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148464	NM_000546.6(TP53):c.375_375+1dup	TP53	Duplication (splice donor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148462	NM_000546.6(TP53):c.920-2A>C	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148457	NM_000546.6(TP53):c.376-6_376del	TP53	Deletion (5 prime UTR variant +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148448	NM_000546.6(TP53):c.708_715del (p.Tyr236_Asn239delinsTer)	TP53	Deletion (nonsense +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148447	NM_000546.6(TP53):c.316_336del (p.Ser106_Gly112del)	TP53	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148445	NM_000546.6(TP53):c.876dup (p.Gly293fs)	TP53 (G293fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148433	NM_000546.6(TP53):c.1100+1G>T	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148427	NM_000546.6(TP53):c.481del (p.Ala161fs)	TP53 (A122fs +3 more)	Deletion (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148421	NM_000546.6(TP53):c.846_853dup (p.Glu285fs)	TP53 (E246fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148411	NM_000546.6(TP53):c.764dup (p.Thr256fs)	TP53 (T124fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148403	NM_000546.6(TP53):c.613_618del (p.Tyr205_Leu206del)	TP53	Deletion (inframe_deletion)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148399	NM_000546.6(TP53):c.718dup (p.Ser240fs)	TP53 (S108fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148392	NM_000546.6(TP53):c.325_330del (p.Phe109_Arg110del)	TP53	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148387	NM_000546.6(TP53):c.564_581del (p.Ala189_Leu194del)	TP53	Deletion (inframe_deletion)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148384	NM_000546.6(TP53):c.896_899del (p.Leu299fs)	TP53 (L167fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148383	NM_000546.6(TP53):c.470_471delinsGT (p.Val157Gly)	TP53 (V25G +2 more)	Indel (missense variant +2 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148381	NM_000546.6(TP53):c.635_645del (p.Phe212fs)	TP53 (F80fs +3 more)	Deletion (frameshift variant)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148379	NM_000546.6(TP53):c.783_794delinsG (p.Ser261fs)	TP53 (S222fs +3 more)	Indel (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148374	NM_000546.6(TP53):c.905_908dup (p.Ser303fs)	TP53 (S264fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148371	NM_000546.6(TP53):c.422_433del (p.Cys141_Gln144del)	TP53	Deletion (inframe_deletion +2 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148368	NM_000546.6(TP53):c.747_748delinsTA (p.Arg249_Pro250delinsSerThr)	TP53	Indel (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148349	NM_000546.6(TP53):c.659_660del (p.Pro219_Tyr220insTer)	TP53	Deletion (nonsense)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148344	NM_000546.6(TP53):c.470_475del (p.Val157_Arg158del)	TP53	Deletion (inframe_deletion +2 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148330	NM_000546.6(TP53):c.376-1_381delinsT	TP53	Indel (5 prime UTR variant +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148327	NM_000546.6(TP53):c.617T>A (p.Leu206Ter)	TP53 (L206* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148316	NM_000546.6(TP53):c.382_383del (p.Pro128fs)	TP53 (P128fs +1 more)	Deletion (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148300	NM_000546.6(TP53):c.920-3_920-1delinsACTGCCTCTTTCCACTTGCACCTTTC	TP53	Indel (splice acceptor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148285	NM_000546.6(TP53):c.565del (p.Ala189fs)	TP53 (A150fs +3 more)	Deletion (frameshift variant)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148284	NM_000546.6(TP53):c.792_794del (p.Leu265del)	TP53 (L133del +3 more)	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148269	NM_000546.6(TP53):c.380_381delinsT (p.Ser127fs)	TP53 (S88fs +1 more)	Indel (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148268	NM_000546.6(TP53):c.637_660del (p.Arg213_Tyr220del)	TP53	Deletion (inframe_deletion)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148262	NM_000546.6(TP53):c.642del (p.His214fs)	TP53 (H214fs +3 more)	Deletion (frameshift variant)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148259	NM_000546.6(TP53):c.897_898insA (p.Pro300fs)	TP53 (P141fs +3 more)	Insertion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148254	NM_000546.6(TP53):c.770_772del (p.Leu257_Glu258delinsGln)	TP53	Deletion (inframe_indel +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148249	NM_000546.6(TP53):c.560-1G>T	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148243	NM_000546.6(TP53):c.483_484insG (p.Ile162fs)	TP53 (I162fs +3 more)	Insertion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148233	NM_000546.6(TP53):c.387_393del (p.Leu130fs)	TP53 (L130fs +1 more)	Deletion (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148229	NM_000546.6(TP53):c.97-2A>C	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148215	NM_000546.6(TP53):c.630_634del (p.Thr211fs)	TP53 (T79fs +3 more)	Deletion (frameshift variant)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148198	NM_000546.6(TP53):c.560-22_560del	TP53	Deletion (splice acceptor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148180	NM_000546.6(TP53):c.681del (p.Asp228fs)	TP53 (D189fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148166	NM_000546.6(TP53):c.782+1G>C	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148164	NM_000546.6(TP53):c.863dup (p.Asn288fs)	TP53 (N288fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148158	NM_000546.6(TP53):c.560-2A>G	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 3148142	NM_000546.6(TP53):c.539_545del (p.Glu180fs)	TP53 (E141fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148127	NM_000546.6(TP53):c.850_860del (p.Thr284fs)	TP53 (T245fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148121	NM_000546.6(TP53):c.112C>T (p.Gln38Ter)	TP53 (Q38*)	Single nucleotide variant (nonsense +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148086	NM_000546.6(TP53):c.461dup (p.Thr155fs)	TP53 (T116fs +2 more)	Duplication (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148032	NM_000546.6(TP53):c.556del (p.Asp186fs)	TP53 (D147fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148015	NM_000546.6(TP53):c.982_985dup (p.Thr329fs)	TP53 (T170fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3148003	NM_000546.6(TP53):c.456dup (p.Pro153fs)	TP53 (P114fs +2 more)	Duplication (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 3147994	NM_000546.6(TP53):c.812A>T (p.Glu271Val)	TP53 (E139V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 2831998	NM_000546.6(TP53):c.323_329del (p.Gly108fs)	TP53 (G108fs +1 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 2758105	NM_000546.6(TP53):c.759_767del (p.Ile254_Thr256del)	TP53	Deletion (inframe_deletion +1 more)	Li-Fraumeni syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2687675	NM_000546.6(TP53):c.499_500del (p.Gln167fs)	TP53 (Q128fs +3 more)	Microsatellite (frameshift variant +1 more)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 2687646	NM_000546.6(TP53):c.532dup (p.His178fs)	TP53 (H139fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 2674426	NM_000546.6(TP53):c.1043_1064delinsGCA (p.Leu348fs)	TP53 (L189fs +3 more)	Indel (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 2674004	NM_000546.6(TP53):c.545_546insGTGAG (p.Cys182delinsTrpTer)	TP53	Insertion (nonsense +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 2633380	NM_000546.6(TP53):c.702C>A (p.Tyr234Ter)	TP53 (Y102* +3 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 2627952	NM_000546.6(TP53):c.322_327dup (p.Phe109_Arg110insGlyPhe)	TP53	Duplication (inframe_insertion +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 2585521	NM_000546.6(TP53):c.459del (p.Gly154fs)	TP53 (G115fs +2 more)	Deletion (frameshift variant +2 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 2583820	NM_000546.6(TP53):c.261_263delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (p.Ala88fs)	TP53 (A49fs +1 more)	Indel (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 2583811	NM_000546.6(TP53):c.878_912dup (p.Lys305fs)	TP53 (K146fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 2574117	NM_000546.6(TP53):c.489_495del (p.Lys164fs)	TP53 (K125fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 2573230	NM_000546.6(TP53):c.743_744insCCGCCCATGAACCTCCGGCATGAACCG (p.Pro250_Ile251insTerArgPro)	TP53	Insertion (nonsense +2 more)	Li-Fraumeni syndrome 1	GPathogenic
Select item 2572992	NM_000546.6(TP53):c.318dup (p.Tyr107fs)	TP53 (Y107fs +1 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 2498689	NM_000546.6(TP53):c.672+1G>C	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2498103	NM_000546.6(TP53):c.291C>T (p.Val97=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 2431327	NM_000546.6(TP53):c.782+2T>C	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 2431091	NM_000546.6(TP53):c.1051A>T (p.Lys351Ter)	TP53 (K192* +3 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome 1 +1 more	GPathogenic
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 2137911	NM_000546.6(TP53):c.309C>A (p.Tyr103Ter)	TP53 (Y103* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2113651	NM_000546.6(TP53):c.997del (p.Arg333fs)	TP53 (R201fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GPathogenic
Select item 1810327	NM_000546.6(TP53):c.97-11C>A	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1802458	NM_000546.6(TP53):c.406C>T (p.Gln136Ter)	TP53 (Q136* +2 more)	Single nucleotide variant (nonsense +1 more)	Adrenocortical carcinoma, hereditary +2 more	GPathogenic
Select item 1771992	NM_000546.6(TP53):c.140dup (p.Asp48fs)	TP53 (D48fs +1 more)	Duplication (frameshift variant)	Li-Fraumeni syndrome 1 +1 more	GPathogenic
Select item 1767527	NM_000546.6(TP53):c.95del (p.Leu32fs)	TP53 (L32fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1759844	NM_000546.6(TP53):c.761T>C (p.Ile254Thr)	TP53 (I215T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic

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