ClinVar for MedGen (Select 1648380) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1341341	NM_000546.6(TP53):c.72dup (p.Leu25fs)	TP53 (L25fs)	Duplication (frameshift variant +1 more)	Adrenocortical carcinoma, hereditary +6 more	GPathogenic
Select item 951459	NM_000546.6(TP53):c.677G>C (p.Gly226Ala)	TP53 (G187A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +12 more	GUncertain significance
Select item 634682	NM_000546.6(TP53):c.817C>G (p.Arg273Gly)	TP53 (R141G +3 more)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +13 more	GPathogenic/Likely pathogenic
Select item 633445	NM_000546.6(TP53):c.869G>T (p.Arg290Leu)	TP53 (R158L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GUncertain significance
Select item 549856	NM_000546.6(TP53):c.1083del (p.Ser362fs)	TP53 (S323fs +3 more)	Deletion (frameshift variant +1 more)	Bone marrow failure syndrome 5	GPathogenic
Select item 549855	NM_000546.6(TP53):c.1077del (p.Ser362fs)	TP53 (S323fs +3 more)	Deletion (frameshift variant +1 more)	Bone marrow failure syndrome 5	GPathogenic
Select item 458520	NM_000546.6(TP53):c.1140del (p.His380fs)	TP53 (H341fs +3 more)	Deletion (frameshift variant +1 more)	Adrenocortical carcinoma, hereditary +7 more	GConflicting classifications of pathogenicity
Select item 428873	NM_000546.6(TP53):c.389T>C (p.Leu130Pro)	TP53 (L130P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic
Select item 389752	NM_000546.6(TP53):c.-12C>T	TP53	Single nucleotide variant (5 prime UTR variant)	Li-Fraumeni syndrome 1 +13 more	GConflicting classifications of pathogenicity
Select item 376659	NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	TP53 (R150P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +14 more	GPathogenic/Likely pathogenic
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	not provided +15 more	GPathogenic OOncogenic
Select item 237950	NM_000546.6(TP53):c.461G>A (p.Gly154Asp)	TP53 (G115D +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significanceFDA Recognized database
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +17 more	GBenign/Likely benign
Select item 182970	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53 (R210* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +14 more	GPathogenic
Select item 182969	NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)	TP53 (G202R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significanceFDA Recognized database
Select item 182947	NM_000546.6(TP53):c.672+18G>C	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +17 more	GBenign/Likely benign
Select item 141963	NM_000546.6(TP53):c.473G>A (p.Arg158His)	TP53 (R119H +2 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 7 +15 more	GPathogenic/Likely pathogenic
Select item 140786	NM_000546.5(TP53):c.319T>C (p.Tyr107His)	TP53 (Y107H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenignFDA Recognized database
Select item 133284	NM_000546.6(TP53):c.460G>A (p.Gly154Ser)	TP53 (G115S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +15 more	GUncertain significance
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 benignFDA Recognized database
Select item 127819	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53 (Y181C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenicFDA Recognized database OOncogenic
Select item 43588	NM_000546.6(TP53):c.139C>T (p.Pro47Ser)	TP53 (P47S +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenignFDA Recognized database
Select item 12379	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53 (R337H +3 more)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm +17 more	GPathogenic/Likely pathogenic
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenicFDA Recognized database OOncogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenicFDA Recognized database OOncogenic
Select item 12365	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	TP53 (G245S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenicFDA Recognized database
Select item 12359	NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	TP53 (S241F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +15 more	GPathogenic/Likely pathogenic OOncogenic
Select item 12351	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	TP53 (P72R +1 more)	Single nucleotide variant (missense variant)	not provided +17 more	GBenign OBenign

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Items: 28