"National Health Laboratory Service, Universitas Academic Hospital and - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810938	NM_000546.6(TP53):c.1100+30A>T	TP53	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
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 1246968	NM_000546.6(TP53):c.993+352C>T	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 135361	NM_000546.6(TP53):c.993+223T>G	TP53 (C209G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1679015	NM_000546.6(TP53):c.993+163AC[3]	TP53	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 93325	NM_000546.6(TP53):c.993+12T>C	TP53	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
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 492614	NM_000546.6(TP53):c.783-33T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +3 more	GLikely benign
Select item 1243959	NM_000546.6(TP53):c.782+92T>G	TP53	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1679016	NM_000546.6(TP53):c.782+89del	TP53	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1243351	NM_000546.6(TP53):c.782+72C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +3 more	GBenign
Select item 137692	NM_000546.6(TP53):c.782+17C>T	TP53	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 221184	NM_000546.6(TP53):c.673-36G>C	TP53	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign
Select item 133420	NM_000546.6(TP53):c.672+31A>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 182947	NM_000546.6(TP53):c.672+18G>C	TP53	Single nucleotide variant (intron variant)	not specified +16 more	GBenign/Likely benign
Select item 184650	NM_000546.6(TP53):c.555C>T (p.Ser185=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +6 more	GLikely 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 12351	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	TP53 (P72R +1 more)	Single nucleotide variant (missense variant)	not specified +16 more	GBenign
Select item 1679017	NM_000546.6(TP53):c.158_163delinsAT (p.Trp53fs)	TP53 (W14fs +1 more)	Indel (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 43588	NM_000546.6(TP53):c.139C>T (p.Pro47Ser)	TP53 (P47S +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 569629	NM_000546.6(TP53):c.116C>T (p.Ala39Val)	TP53 (A39V)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 132708	NM_000546.6(TP53):c.108G>A (p.Pro36=)	TP53	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +17 more	GBenign/Likely benign
Select item 256604	NM_000546.6(TP53):c.97-29C>A	TP53	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1275830	NM_000546.6(TP53):c.97-52G>A	TP53	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1679018	NM_000546.6(TP53):c.96+41_96+48del	TP53	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679019	NM_000546.6(TP53):c.96+41A>G	TP53	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 492606	NM_000546.6(TP53):c.75-41C>T	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Li-Fraumeni syndrome 1 +3 more	GLikely benign
Select item 137691	NM_000546.6(TP53):c.74+38C>G	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GBenign

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Items: 29