"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458522	NM_000546.6(TP53):c.1165G>A (p.Gly389Arg)	TP53 (G389R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 186611	NM_000546.6(TP53):c.1135C>T (p.Arg379Cys)	TP53 (R247C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 480749	NM_000546.6(TP53):c.1133C>G (p.Ser378Cys)	TP53 (S246C +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 975959	NM_000546.6(TP53):c.1129A>C (p.Thr377Pro)	TP53 (T218P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 665996	NM_000546.6(TP53):c.1120G>T (p.Gly374Cys)	TP53 (G215C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 839498	NM_000546.6(TP53):c.1119G>T (p.Lys373Asn)	TP53 (K334N +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 577458	NM_000546.6(TP53):c.1118A>G (p.Lys373Arg)	TP53 (K334R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 848951	NM_000546.6(TP53):c.1090G>T (p.Ala364Ser)	TP53 (A205S +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 188151	NM_000546.6(TP53):c.1087A>G (p.Arg363Gly)	TP53 (R231G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 485048	NM_000546.6(TP53):c.1085G>T (p.Ser362Ile)	TP53 (S323I +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 458516	NM_000546.6(TP53):c.1085G>A (p.Ser362Asn)	TP53 (S230N +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 458515	NM_000546.6(TP53):c.1084A>T (p.Ser362Cys)	TP53 (S323C +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 141331	NM_000546.6(TP53):c.1082G>A (p.Gly361Glu)	TP53 (G229E +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 230306	NM_000546.6(TP53):c.1079G>A (p.Gly360Glu)	TP53 (G228E +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 629928	NM_000546.6(TP53):c.1061A>G (p.Gln354Arg)	TP53 (Q354R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 646925	NM_000546.6(TP53):c.1036G>A (p.Glu346Lys)	TP53 (E214K +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1015453	NM_000546.6(TP53):c.1027G>C (p.Glu343Gln)	TP53 (E184Q +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 480738	NM_000546.6(TP53):c.1004G>A (p.Arg335His)	TP53 (R296H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 216475	NM_000546.6(TP53):c.964C>T (p.Pro322Ser)	TP53 (P190S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 492627	NM_000546.6(TP53):c.953C>T (p.Pro318Leu)	TP53 (P186L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 581024	NM_000546.6(TP53):c.950A>G (p.Gln317Arg)	TP53 (Q185R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 823268	NM_000546.6(TP53):c.946C>T (p.Pro316Ser)	TP53 (P277S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 230382	NM_000546.6(TP53):c.946C>A (p.Pro316Thr)	TP53 (P184T +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 406587	NM_000546.6(TP53):c.941C>T (p.Ser314Phe)	TP53 (S275F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 234067	NM_000546.6(TP53):c.930C>A (p.Asn310Lys)	TP53 (N178K +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 458575	NM_000546.6(TP53):c.925C>T (p.Pro309Ser)	TP53 (P177S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 142702	NM_000546.6(TP53):c.910A>G (p.Thr304Ala)	TP53 (T172A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1495821	NM_000546.6(TP53):c.892G>C (p.Glu298Gln)	TP53 (E166Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 428862	NM_000546.6(TP53):c.883C>T (p.Pro295Ser)	TP53 (P163S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign 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 +5 more	GConflicting classifications of pathogenicity OUncertain significance
Select item 964952	NM_000546.6(TP53):c.850A>G (p.Thr284Ala)	TP53 (T152A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 458567	NM_000546.6(TP53):c.830G>T (p.Cys277Phe)	TP53 (C238F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 659457	NM_000546.6(TP53):c.761T>G (p.Ile254Ser)	TP53 (I215S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 406567	NM_000546.6(TP53):c.727A>G (p.Met243Val)	TP53 (M111V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 482214	NM_000546.6(TP53):c.694A>C (p.Ile232Leu)	TP53 (I232L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 582302	NM_000546.6(TP53):c.686G>C (p.Cys229Ser)	TP53 (C190S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 419040	NM_000546.6(TP53):c.686G>A (p.Cys229Tyr)	TP53 (C190Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
Select item 635390	NM_000546.6(TP53):c.672G>T (p.Glu224Asp)	TP53 (E185D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity OUncertain significance
Select item 183071	NM_000546.6(TP53):c.649G>A (p.Val217Met)	TP53 (V178M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 627819	NM_000546.6(TP53):c.625A>G (p.Arg209Gly)	TP53 (R170G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 840399	NM_000546.6(TP53):c.559G>A (p.Gly187Ser)	TP53 (G55S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 39420	NM_000546.6(TP53):c.542G>T (p.Arg181Leu)	TP53 (R181L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 422563	NM_000546.6(TP53):c.457C>T (p.Pro153Ser)	TP53 (P114S +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 428863	NM_000546.6(TP53):c.442G>T (p.Asp148Tyr)	TP53 (D109Y +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 864520	NM_000546.6(TP53):c.425C>T (p.Pro142Leu)	TP53 (P10L +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 480743	NM_000546.6(TP53):c.382C>A (p.Pro128Thr)	TP53 (P89T +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
Select item 492575	NM_000546.6(TP53):c.334G>A (p.Gly112Ser)	TP53 (G112S +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1487358	NM_000546.6(TP53):c.322G>T (p.Gly108Cys)	TP53 (G69C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 629791	NM_000546.6(TP53):c.317G>T (p.Ser106Ile)	TP53 (S106I +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 141114	NM_000546.6(TP53):c.314G>A (p.Gly105Asp)	TP53 (G105D +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 186132	NM_000546.6(TP53):c.305C>T (p.Thr102Ile)	TP53 (T102I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 528236	NM_000546.6(TP53):c.293C>T (p.Pro98Leu)	TP53 (P98L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182962	NM_000546.6(TP53):c.289G>C (p.Val97Leu)	TP53 (V58L +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 480733	NM_000546.6(TP53):c.275C>T (p.Pro92Leu)	TP53 (P53L +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182923	NM_000546.6(TP53):c.266C>T (p.Pro89Leu)	TP53 (P50L +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 480734	NM_000546.6(TP53):c.263C>T (p.Ala88Val)	TP53 (A49V +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 942021	NM_000546.6(TP53):c.260C>T (p.Pro87Leu)	TP53 (P48L +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 482216	NM_000546.6(TP53):c.244C>G (p.Pro82Ala)	TP53 (P43A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 583101	NM_000546.6(TP53):c.242C>T (p.Thr81Ile)	TP53 (T81I +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 230368	NM_000546.6(TP53):c.233C>G (p.Ala78Gly)	TP53 (A39G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 458528	NM_000546.6(TP53):c.229C>A (p.Pro77Thr)	TP53 (P38T +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 577431	NM_000546.6(TP53):c.211C>G (p.Pro71Ala)	TP53 (P71A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 950660	NM_000546.6(TP53):c.182A>G (p.Asp61Gly)	TP53 (D22G +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 142863	NM_000546.6(TP53):c.171C>A (p.Asp57Glu)	TP53 (D18E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1506044	NM_000546.6(TP53):c.147T>G (p.Asp49Glu)	TP53 (D10E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 406608	NM_000546.6(TP53):c.139C>A (p.Pro47Thr)	TP53 (P8T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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	GConflicting classifications of pathogenicity
Select item 1471049	NM_000546.6(TP53):c.124G>A (p.Asp42Asn)	TP53 (D3N +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 818331	NM_000546.6(TP53):c.107C>T (p.Pro36Leu)	TP53 (P36L)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 237949	NM_000546.6(TP53):c.38C>T (p.Pro13Leu)	TP53 (P13L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 406604	NM_000546.6(TP53):c.37C>T (p.Pro13Ser)	TP53 (P13S)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 663876	NM_000546.6(TP53):c.35C>G (p.Pro12Arg)	TP53 (P12R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 822501	NM_000546.6(TP53):c.29T>G (p.Val10Gly)	TP53 (V10G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 458531	NM_000546.6(TP53):c.26G>A (p.Ser9Asn)	TP53 (S9N)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 490172	NM_000546.6(TP53):c.4G>A (p.Glu2Lys)	TP53 (E2K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 75