"Sema4, Sema4"[submitter] AND "TP53"[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135360	NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)	TP53 (S234A +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 142552	NM_000546.6(TP53):c.1079G>T (p.Gly360Val)	TP53 (G228V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 142003	NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)	TP53 (G228A +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 231485	NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)	TP53 (Q222K +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 182970	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53 (R210* +3 more)	Single nucleotide variant (nonsense +1 more)	Adrenocortical carcinoma, hereditary +14 more	GPathogenic
Select item 182952	NM_000546.6(TP53):c.1014C>T (p.Phe338=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +5 more	GBenign/Likely benign
Select item 482236	NM_000546.6(TP53):c.1008G>A (p.Glu336=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +1 more	GLikely benign
Select item 141159	NM_000546.6(TP53):c.1003C>T (p.Arg335Cys)	TP53 (R203C +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 142273	NM_000546.6(TP53):c.998G>A (p.Arg333His)	TP53 (R201H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 93325	NM_000546.6(TP53):c.993+12T>C	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 231008	NM_000546.6(TP53):c.949C>A (p.Gln317Lys)	TP53 (Q185K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 185212	NM_000546.6(TP53):c.943T>A (p.Ser315Thr)	TP53 (S183T +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 141102	NM_000546.6(TP53):c.935C>G (p.Thr312Ser)	TP53 (T180S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 934839	NM_000546.6(TP53):c.920-14_920-3del	TP53	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 185487	NM_000546.6(TP53):c.920-5C>T	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1154532	NM_000546.6(TP53):c.920-9C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 184179	NM_000546.6(TP53):c.903A>G (p.Pro301=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 183849	NM_000546.6(TP53):c.891C>T (p.His297=)	TP53	Single nucleotide variant (synonymous variant)	TP53-related condition +5 more	GLikely benign
Select item 132754	NM_000546.6(TP53):c.885T>C (p.Pro295=)	TP53	Single nucleotide variant (synonymous variant)	Squamous cell carcinoma of the head and neck +6 more	GBenign/Likely benign
Select item 1692474	NM_000546.6(TP53):c.870C>T (p.Arg290=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 127825	NM_000546.6(TP53):c.869G>A (p.Arg290His)	TP53 (R158H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 422130	NM_000546.6(TP53):c.861G>C (p.Glu287Asp)	TP53 (E155D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 127824	NM_000546.6(TP53):c.847C>T (p.Arg283Cys)	TP53 (R151C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +8 more	GPathogenic/Likely pathogenic
Select item 127823	NM_000546.6(TP53):c.800G>A (p.Arg267Gln)	TP53 (R135Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 142916	NM_000546.6(TP53):c.787A>G (p.Asn263Asp)	TP53 (N131D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141228	NM_000546.6(TP53):c.784G>A (p.Gly262Ser)	TP53 (G130S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 414025	NM_000546.6(TP53):c.783-4G>A	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 746587	NM_000546.6(TP53):c.783-10T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 12365	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	TP53 (G245S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 127821	NM_000546.6(TP53):c.704A>G (p.Asn235Ser)	TP53 (N103S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 1099079	NM_000546.6(TP53):c.699C>T (p.His233=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1194751	NM_000546.6(TP53):c.672+48G>A	TP53	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 187714	NM_000546.6(TP53):c.666G>A (p.Pro222=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +3 more	GLikely benign
Select item 132972	NM_000546.6(TP53):c.666G>T (p.Pro222=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 127819	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53 (Y181C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 237952	NM_000546.6(TP53):c.652G>A (p.Val218Met)	TP53 (V179M +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 826438	NM_000546.6(TP53):c.648G>C (p.Val216=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 265337	NM_000546.6(TP53):c.643A>G (p.Ser215Gly)	TP53 (S176G +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 140943	NM_000546.6(TP53):c.642T>G (p.His214Gln)	TP53 (H175Q +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 643078	NM_000546.6(TP53):c.641A>C (p.His214Pro)	TP53 (H214P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GUncertain significance
Select item 184873	NM_000546.6(TP53):c.612G>A (p.Glu204=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 127818	NM_000546.6(TP53):c.604C>T (p.Arg202Cys)	TP53 (R163C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 231165	NM_000546.6(TP53):c.587G>C (p.Arg196Pro)	TP53 (R157P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic/Likely pathogenic
Select item 135950	NM_000546.6(TP53):c.582T>C (p.Leu194=)	TP53	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 127816	NM_000546.6(TP53):c.572C>G (p.Pro191Arg)	TP53 (P152R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 12382	NM_000546.6(TP53):c.566C>T (p.Ala189Val)	TP53 (A189V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GConflicting classifications of pathogenicity
Select item 215474	NM_000546.6(TP53):c.560-8G>C	TP53	Single nucleotide variant (intron variant)	TP53-related condition +4 more	GBenign/Likely benign
Select item 184717	NM_000546.6(TP53):c.510G>A (p.Thr170=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome 1 +4 more	GBenign/Likely benign
Select item 184042	NM_000546.6(TP53):c.474C>T (p.Arg158=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 185404	NM_000546.6(TP53):c.469G>A (p.Val157Ile)	TP53 (V118I +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 127811	NM_000546.6(TP53):c.467G>A (p.Arg156His)	TP53 (R117H +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 127810	NM_000546.6(TP53):c.466C>T (p.Arg156Cys)	TP53 (R117C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +14 more	GConflicting classifications of pathogenicity
Select item 186179	NM_000546.6(TP53):c.464C>G (p.Thr155Ser)	TP53 (T116S +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 230629	NM_000546.6(TP53):c.459C>T (p.Pro153=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome +5 more	GBenign/Likely benign
Select item 1692473	NM_000546.6(TP53):c.415A>C (p.Lys139Gln)	TP53 (K100Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 186498	NM_000546.6(TP53):c.390C>T (p.Leu130=)	TP53	Single nucleotide variant (synonymous variant +1 more)	TP53-related condition +4 more	GLikely benign
Select item 481025	NM_000546.6(TP53):c.376-4A>T	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 406570	NM_000546.6(TP53):c.375+4A>G	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +2 more	GUncertain significance
Select item 664392	NM_000546.6(TP53):c.375+1G>C	TP53	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 183748	NM_000546.6(TP53):c.374C>T (p.Thr125Met)	TP53 (T125M +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 184317	NM_000546.6(TP53):c.354A>T (p.Thr118=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +6 more	GBenign/Likely benign
Select item 127808	NM_000546.6(TP53):c.329G>A (p.Arg110His)	TP53 (R110H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 140786	NM_000546.5(TP53):c.319T>C (p.Tyr107His)	TP53 (Y107H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 634707	NM_000546.6(TP53):c.298C>T (p.Gln100Ter)	TP53 (Q100* +1 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 458529	NM_000546.6(TP53):c.234_263del (p.Ala79_Ala88del)	TP53	Deletion (inframe_deletion)	Li-Fraumeni syndrome +3 more	GUncertain significance
Select item 184097	NM_000546.6(TP53):c.255T>C (p.Pro85=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome 1 +5 more	GBenign/Likely benign
Select item 186003	NM_000546.6(TP53):c.249G>A (p.Ala83=)	TP53	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 127805	NM_000546.6(TP53):c.248C>T (p.Ala83Val)	TP53 (A44V +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +5 more	GConflicting classifications of pathogenicity
Select item 184721	NM_000546.6(TP53):c.246G>A (p.Pro82=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 482216	NM_000546.6(TP53):c.244C>G (p.Pro82Ala)	TP53 (P43A +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 184625	NM_000546.6(TP53):c.222C>T (p.Ala74=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 184372	NM_000546.6(TP53):c.216C>T (p.Pro72=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome 1 +4 more	GBenign/Likely benign
Select item 185120	NM_000546.6(TP53):c.215C>A (p.Pro72His)	TP53 (P33H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 185003	NM_000546.6(TP53):c.204G>A (p.Glu68=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1086600	NM_000546.6(TP53):c.189T>C (p.Ala63=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +2 more	GLikely benign
Select item 185834	NM_000546.6(TP53):c.180A>C (p.Pro60=)	TP53	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 127804	NM_000546.6(TP53):c.173C>G (p.Pro58Arg)	TP53 (P19R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1455400	NM_000546.6(TP53):c.154C>T (p.Gln52Ter)	TP53 (Q52* +1 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1 +2 more	GPathogenic
Select item 1692471	NM_000546.6(TP53):c.129G>C (p.Leu43Phe)	TP53 (L43F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186290	NM_000546.6(TP53):c.102C>G (p.Pro34=)	TP53	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 187457	NM_000546.6(TP53):c.97-3C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 182945	NM_000546.6(TP53):c.97-9C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127827	NM_000546.6(TP53):c.91G>A (p.Val31Ile)	TP53 (V31I)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 638927	NM_000546.6(TP53):c.87C>G (p.Asn29Lys)	TP53 (N29K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 184112	NM_000546.6(TP53):c.63C>T (p.Asp21=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 663876	NM_000546.6(TP53):c.35C>G (p.Pro12Arg)	TP53 (P12R)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GUncertain significance
Select item 41723	NM_000546.6(TP53):c.31G>C (p.Glu11Gln)	TP53 (E11Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 127806	NM_000546.6(TP53):c.28G>A (p.Val10Ile)	TP53 (V10I)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 183836	NM_000546.6(TP53):c.6G>A (p.Glu2=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 1692472	NM_000546.6(TP53):c.-29+1del	LOC126862483, TP53 +1 more	Deletion (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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Items: 91